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  • Mutation  (15)
  • American Association for the Advancement of Science (AAAS)  (15)
  • American Geophysical Union (AGU)
  • 2000-2004  (15)
Collection
Keywords
Publisher
  • American Association for the Advancement of Science (AAAS)  (15)
  • American Geophysical Union (AGU)
Years
Year
  • 1
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    Questioning evidence for recombination in human mitochondrial DNA (2000)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2000-07-06
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Parsons, T J -- Irwin, J A -- New York, N.Y. -- Science. 2000 Jun 16;288(5473):1931.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, 1413 Research Blvd., Rockville, MD 20886, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/10877702" target="_blank"〉PubMed〈/a〉
    Keywords: DNA, Mitochondrial/*genetics ; Databases, Factual ; Ethnic Groups/genetics ; Humans ; Linkage Disequilibrium ; Mutation ; *Recombination, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Finding genes that underlie complex traits (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-12-21
    Description: Phenotypic variation among organisms is central to evolutionary adaptations underlying natural and artificial selection, and also determines individual susceptibility to common diseases. These types of complex traits pose special challenges for genetic analysis because of gene-gene and gene-environment interactions, genetic heterogeneity, low penetrance, and limited statistical power. Emerging genome resources and technologies are enabling systematic identification of genes underlying these complex traits. We propose standards for proof of gene discovery in complex traits and evaluate the nature of the genes identified to date. These proof-of-concept studies demonstrate the insights that can be expected from the accelerating pace of gene discovery in this field.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Glazier, Anne M -- Nadeau, Joseph H -- Aitman, Timothy J -- New York, N.Y. -- Science. 2002 Dec 20;298(5602):2345-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College Faculty of Medicine, Ducane Road, London W12 0NN, UK.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12493905" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Animals ; Chromosome Mapping ; Genetic Linkage ; *Genetic Predisposition to Disease ; Genetic Variation ; Humans ; *Multifactorial Inheritance ; Mutation ; Phenotype ; Plants/genetics ; *Quantitative Trait Loci ; *Quantitative Trait, Heritable ; Saccharomyces cerevisiae/genetics ; Sequence Analysis, DNA
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
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    Genetic basis for activity differences between vancomycin and glycolipid derivatives of vancomycin (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-08-25
    Description: Small molecules that affect specific protein functions can be valuable tools for dissecting complex cellular processes. Peptidoglycan synthesis and degradation is a process in bacteria that involves multiple enzymes under strict temporal and spatial regulation. We used a set of small molecules that inhibit the transglycosylation step of peptidoglycan synthesis to discover genes that help to regulate this process. We identified a gene responsible for the susceptibility of Escherichia coli cells to killing by glycolipid derivatives of vancomycin, thus establishing a genetic basis for activity differences between these compounds and vancomycin.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Eggert, U S -- Ruiz, N -- Falcone, B V -- Branstrom, A A -- Goldman, R C -- Silhavy, T J -- Kahne, D -- New York, N.Y. -- Science. 2001 Oct 12;294(5541):361-4. Epub 2001 Aug 23.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Chemistry, Princeton University, Princeton, NJ 08544, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11520949" target="_blank"〉PubMed〈/a〉
    Keywords: Anti-Bacterial Agents/chemistry/*pharmacology ; Bacterial Proteins/genetics/metabolism ; Drug Resistance, Microbial ; Drug Resistance, Multiple ; Enzyme Inhibitors/pharmacology ; Escherichia coli/*drug effects/genetics/growth & development ; *Genes, Bacterial ; Genetic Complementation Test ; Glycosylation ; Hexosyltransferases/antagonists & inhibitors ; Lipoproteins/genetics/metabolism ; Microbial Sensitivity Tests ; Mutation ; N-Acetylmuramoyl-L-alanine Amidase/metabolism ; Oligosaccharides/chemistry/pharmacology ; Peptidoglycan/*biosynthesis ; Peptidoglycan Glycosyltransferase ; Phenotype ; Vancomycin/*analogs & derivatives/chemistry/*pharmacology ; Vancomycin Resistance/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 4
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    Sex matters in meiosis (2002)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2002-06-22
    Description: In mammals, fertilization typically involves the ovulation of one or a few eggs at one end of the female reproductive tract and the entry of millions of sperm at the other. Given this disparity in numbers, it might be expected that the more precious commodity-eggs-would be subject to more stringent quality-control mechanisms. However, information from engineered mutations of meiotic genes suggests just the opposite. Specifically, the available mutants demonstrate striking sexual dimorphism in response to meiotic disruption; for example, faced with adversity, male meiosis grinds to a halt, whereas female meiosis soldiers on. This female "robustness" comes with a cost, however, because aneuploidy appears to be increased in the resultant oocytes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hunt, Patricia A -- Hassold, Terry J -- HD21341/HD/NICHD NIH HHS/ -- HD31866/HD/NICHD NIH HHS/ -- HD37502/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 2002 Jun 21;296(5576):2181-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Genetics, Case Western Reserve University, Cleveland, OH 44106-4955, USA. pah13@po.cwru.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12077403" target="_blank"〉PubMed〈/a〉
    Keywords: Aneuploidy ; Animals ; Cell Cycle ; Female ; Humans ; Male ; *Meiosis ; Mice ; Mutation ; Oocytes/*physiology ; *Oogenesis ; Prophase ; Proteins/genetics/metabolism ; Sex Characteristics ; Spermatocytes/*physiology ; *Spermatogenesis
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 5
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    Genome-wide insertional mutagenesis of Arabidopsis thaliana (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-08-02
    Description: Over 225,000 independent Agrobacterium transferred DNA (T-DNA) insertion events in the genome of the reference plant Arabidopsis thaliana have been created that represent near saturation of the gene space. The precise locations were determined for more than 88,000 T-DNA insertions, which resulted in the identification of mutations in more than 21,700 of the approximately 29,454 predicted Arabidopsis genes. Genome-wide analysis of the distribution of integration events revealed the existence of a large integration site bias at both the chromosome and gene levels. Insertion mutations were identified in genes that are regulated in response to the plant hormone ethylene.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Alonso, Jose M -- Stepanova, Anna N -- Leisse, Thomas J -- Kim, Christopher J -- Chen, Huaming -- Shinn, Paul -- Stevenson, Denise K -- Zimmerman, Justin -- Barajas, Pascual -- Cheuk, Rosa -- Gadrinab, Carmelita -- Heller, Collen -- Jeske, Albert -- Koesema, Eric -- Meyers, Cristina C -- Parker, Holly -- Prednis, Lance -- Ansari, Yasser -- Choy, Nathan -- Deen, Hashim -- Geralt, Michael -- Hazari, Nisha -- Hom, Emily -- Karnes, Meagan -- Mulholland, Celene -- Ndubaku, Ral -- Schmidt, Ian -- Guzman, Plinio -- Aguilar-Henonin, Laura -- Schmid, Markus -- Weigel, Detlef -- Carter, David E -- Marchand, Trudy -- Risseeuw, Eddy -- Brogden, Debra -- Zeko, Albana -- Crosby, William L -- Berry, Charles C -- Ecker, Joseph R -- New York, N.Y. -- Science. 2003 Aug 1;301(5633):653-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12893945" target="_blank"〉PubMed〈/a〉
    Keywords: 3' Untranslated Regions ; 5' Untranslated Regions ; Alleles ; Arabidopsis/*genetics/metabolism ; Arabidopsis Proteins/genetics/metabolism ; Base Composition ; Chromosomes, Plant/genetics ; DNA, Bacterial/genetics ; DNA, Plant/chemistry/genetics ; Ethylenes/pharmacology ; Exons ; Expressed Sequence Tags ; Gene Expression ; Gene Expression Profiling ; Gene Expression Regulation, Plant/drug effects ; Genes, Plant ; *Genome, Plant ; Introns ; *Mutagenesis, Insertional ; Mutation ; Oligonucleotide Array Sequence Analysis ; Promoter Regions, Genetic ; Recombination, Genetic ; Rhizobium/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 6
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    Cerebellar LTD and learning-dependent timing of conditioned eyelid responses (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-09-23
    Description: Mammals can be trained to make a conditioned movement at a precise time, which is correlated to the interval between the conditioned stimulus and unconditioned stimulus during the learning. This learning-dependent timing has been shown to depend on an intact cerebellar cortex, but which cellular process is responsible for this form of learning remains to be demonstrated. Here, we show that protein kinase C-dependent long-term depression in Purkinje cells is necessary for learning-dependent timing of Pavlovian-conditioned eyeblink responses.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Koekkoek, S K E -- Hulscher, H C -- Dortland, B R -- Hensbroek, R A -- Elgersma, Y -- Ruigrok, T J H -- De Zeeuw, C I -- New York, N.Y. -- Science. 2003 Sep 19;301(5640):1736-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Neuroscience, Erasmus MC, 3000 DR Rotterdam, Netherlands.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14500987" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; *Blinking ; Cerebellum/*physiology ; *Conditioning, Eyelid ; Electroshock ; *Learning ; *Long-Term Synaptic Depression ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mutation ; N-Methylaspartate/pharmacology ; Protein Kinase C/genetics/metabolism ; Purkinje Cells/*physiology ; Time Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
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    Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-12-13
    Description: Even though human and chimpanzee gene sequences are nearly 99% identical, sequence comparisons can nevertheless be highly informative in identifying biologically important changes that have occurred since our ancestral lineages diverged. We analyzed alignments of 7645 chimpanzee gene sequences to their human and mouse orthologs. These three-species sequence alignments allowed us to identify genes undergoing natural selection along the human and chimp lineage by fitting models that include parameters specifying rates of synonymous and nonsynonymous nucleotide substitution. This evolutionary approach revealed an informative set of genes with significantly different patterns of substitution on the human lineage compared with the chimpanzee and mouse lineages. Partitions of genes into inferred biological classes identified accelerated evolution in several functional classes, including olfaction and nuclear transport. In addition to suggesting adaptive physiological differences between chimps and humans, human-accelerated genes are significantly more likely to underlie major known Mendelian disorders.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Clark, Andrew G -- Glanowski, Stephen -- Nielsen, Rasmus -- Thomas, Paul D -- Kejariwal, Anish -- Todd, Melissa A -- Tanenbaum, David M -- Civello, Daniel -- Lu, Fu -- Murphy, Brian -- Ferriera, Steve -- Wang, Gary -- Zheng, Xianqgun -- White, Thomas J -- Sninsky, John J -- Adams, Mark D -- Cargill, Michele -- New York, N.Y. -- Science. 2003 Dec 12;302(5652):1960-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Molecular Biology and Genetics, Cornell University, Ithaca, NY 14853, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/14671302" target="_blank"〉PubMed〈/a〉
    Keywords: Active Transport, Cell Nucleus/genetics ; Amino Acids/metabolism ; Animals ; Biological Evolution ; Computational Biology ; *Evolution, Molecular ; Female ; Genes ; Genetic Diseases, Inborn/genetics ; *Genome ; *Genome, Human ; Humans ; Likelihood Functions ; Male ; Mice/genetics ; Models, Genetic ; Models, Statistical ; Mutation ; Pan troglodytes/*genetics ; Phylogeny ; Proteins/chemistry/genetics ; Pseudogenes ; Receptors, Odorant/genetics ; *Selection, Genetic ; Sequence Alignment ; Sequence Homology, Nucleic Acid ; Signal Transduction/genetics ; Smell/genetics ; Species Specificity
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 8
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    Fusion of cells by flipped SNAREs (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-06-14
    Description: The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) hypothesis suggests that pairs of proteins known as vesicle (v-) SNAREs and target membrane (t-) SNAREs interact specifically to control and mediate intracellular membrane fusion events. Here, cells expressing the interacting domains of v- and t-SNAREs on the cell surface were found to fuse spontaneously, demonstrating that SNAREs are sufficient to fuse biological membranes.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hu, Chuan -- Ahmed, Mahiuddin -- Melia, Thomas J -- Sollner, Thomas H -- Mayer, Thomas -- Rothman, James E -- New York, N.Y. -- Science. 2003 Jun 13;300(5626):1745-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Cellular Biochemistry and Biophysics Program, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, Box 251, New York, NY 10021, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12805548" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Antigens, Surface/chemistry/*metabolism ; COS Cells ; *Cell Fusion ; Cell Membrane/*metabolism ; Cercopithecus aethiops ; Endoplasmic Reticulum/metabolism ; Glycosylation ; Membrane Fusion/physiology ; Membrane Proteins/chemistry/genetics/*metabolism ; Mutation ; Nerve Tissue Proteins/chemistry/genetics/*metabolism ; Protein Binding ; Protein Folding ; Protein Structure, Tertiary ; R-SNARE Proteins ; Recombinant Fusion Proteins/metabolism ; Synaptosomal-Associated Protein 25 ; Syntaxin 1 ; Transfection
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 9
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    Nucleosome arrays reveal the two-start organization of the chromatin fiber (2004)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2004-11-30
    Description: Chromatin folding determines the accessibility of DNA constituting eukaryotic genomes and consequently is profoundly important in the mechanisms of nuclear processes such as gene regulation. Nucleosome arrays compact to form a 30-nanometer chromatin fiber of hitherto disputed structure. Two competing classes of models have been proposed in which nucleosomes are either arranged linearly in a one-start higher order helix or zigzag back and forth in a two-start helix. We analyzed compacted nucleosome arrays stabilized by introduction of disulfide cross-links and show that the chromatin fiber comprises two stacks of nucleosomes in accord with the two-start model.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dorigo, Benedetta -- Schalch, Thomas -- Kulangara, Alexandra -- Duda, Sylwia -- Schroeder, Rasmus R -- Richmond, Timothy J -- New York, N.Y. -- Science. 2004 Nov 26;306(5701):1571-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Eidgenossische Technische Hochschule (ETH) Zurich, Institute for Molecular Biology and Biophysics, ETH-Honggerberg, CH-8093 Zurich, Switzerland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15567867" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromatin/*chemistry/ultrastructure ; DNA/chemistry/metabolism ; Electrophoresis, Polyacrylamide Gel ; Histones/chemistry/genetics/metabolism ; Microscopy, Electron ; Models, Biological ; Models, Molecular ; Multiprotein Complexes/chemistry ; Mutation ; Nucleosomes/*chemistry/ultrastructure ; Protein Folding ; Xenopus laevis
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 10
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    Cell cycle regulation of myosin-V by calcium/calmodulin-dependent protein kinase II (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-08-18
    Description: Organelle transport by myosin-V is down-regulated during mitosis, presumably by myosin-V phosphorylation. We used mass spectrometry phosphopeptide mapping to show that the tail of myosin-V was phosphorylated in mitotic Xenopus egg extract on a single serine residue localized in the carboxyl-terminal organelle-binding domain. Phosphorylation resulted in the release of the motor from the organelle. The phosphorylation site matched the consensus sequence of calcium/calmodulin-dependent protein kinase II (CaMKII), and inhibitors of CaMKII prevented myosin-V release. The modulation of cargo binding by phosphorylation is likely to represent a general mechanism regulating organelle transport by myosin-V.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Karcher, R L -- Roland, J T -- Zappacosta, F -- Huddleston, M J -- Annan, R S -- Carr, S A -- Gelfand, V I -- GM-52111/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2001 Aug 17;293(5533):1317-20.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cell and Structural Biology, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11509731" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Biological Transport ; Calcium-Calmodulin-Dependent Protein Kinase Type 2 ; Calcium-Calmodulin-Dependent Protein Kinases/antagonists & inhibitors/*metabolism ; Calmodulin-Binding Proteins/chemistry/genetics/*metabolism ; Cell Extracts ; Egtazic Acid/analogs & derivatives/pharmacology ; Enzyme Inhibitors/pharmacology ; Interphase ; Mass Spectrometry ; Melanophores/metabolism/ultrastructure ; Melanosomes/*metabolism ; *Mitosis ; Molecular Motor Proteins/*metabolism ; Molecular Sequence Data ; Mutation ; *Myosin Type V ; Nerve Tissue Proteins/chemistry/genetics/*metabolism ; Ovum ; Peptides/pharmacology ; Phosphopeptides/analysis/metabolism ; Phosphorylation ; Phosphoserine/metabolism ; Recombinant Fusion Proteins/metabolism ; Transfection ; Xenopus
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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