ExLibris header image
SFX Logo
Title: Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients
Source:

Nature [0028-0836] Yang, Thomas yr:1984


Collapse list of basic services Basic
Full text
Full text available via Nature
GO
Document delivery
Request document via Library/Bibliothek GO
Users interested in this article also expressed an interest in the following:
1. Nguyen, Khue V. "Identification of Novel Mutations in the Human HPRT Gene." Nucleosides, nucleotides & nucleic acids 32.3 (2013): 155-160. Link to SFX for this item
2. Ea, H. "Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase." Arthritis and rheumatism 60.7 (2009): 2201-2204. Link to Full Text for this item Link to SFX for this item
3. Allison, A C C. "Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation." The Lancet 2.7946 (1975): 1179-83. Link to SFX for this item
4. Nguyen, Khue V. "Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members." Nucleosides, nucleotides & nucleic acids 31.8 (2012): 616-629. Link to SFX for this item
5. Rivard, Mary T. "The lived experience of fathers whose children are diagnosed with a genetic disorder." Journal of obstetric, gynecologic, and neonatal nursing 43.1 (2014): 38-49. Link to SFX for this item
6. GH, G. "Deficiency of the purine metabolic gene HPRT dysregulates microRNA-17 family cluster and guanine-based cellular functions: a role for EPAC in Lesch-Nyhan syndrome." Human molecular genetics 22.22 (2013): 4502-4515. Link to SFX for this item
7. Corrigan, A. "HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation." Nucleosides, nucleotides & nucleic acids 30.12 (2011): 1260-1265. Link to SFX for this item
8. Nguyen, William V. "Novel mutations in the human HPRT gene." Nucleosides, nucleotides & nucleic acids 30.6 (2011): 440-445. Link to SFX for this item
9. Tsuji, A. "p-aminohippuric acid transport at renal apical membrane mediated by human inorganic phosphate transporter NPT1." Biochemical and biophysical research communications 270.1 (2000): 254-259. Link to Full Text for this item Link to SFX for this item
10. FLORIDI, A. "ACTION OF THE ANTI-TUMOR AND ANTI-SPERMOGENIC AGENT LONIDAMINE ON ELECTRON-TRANSPORT IN EHRLICH ASCITES TUMOR MITOCHONDRIA." Archives of biochemistry and biophysics 226.1 (1983): 73-83. Link to Full Text for this item Link to SFX for this item
11. Gamble, G. "Factors associated with recurrent hospital admissions for gout: a case-control study." Journal of clinical rheumatology 15.6 (2009): 271-4. Link to SFX for this item
12. Wong, G R F. "Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo." Proceedings of the National Academy of Sciences of the United States of America 93.11 (1996): 5539-5543. Link to Full Text for this item Link to SFX for this item
13. Nyhan, W L L. "The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism." Journal of inherited metabolic disease 20.2 (1997): 171-8. Link to Full Text for this item Link to SFX for this item
14. Chandekar, P. "Lesch-nyhan syndrome in an Indian child." Indian journal of dermatology. 60.3: 298-300. Link to SFX for this item
15. "Studies in the area of biochemistry reported from University of Minnesota, Department of Pediatrics." Science Letter (2010): 5231-. Link to SFX for this item
16. Russo, D. "High frequency of genomic deletions induced by Me-lex, a sequence selective N3-adenine methylating agent, at the Hprt locus in Chinese hamster ovary cells." Mutation research 671.1 (2009): 58-66. Link to SFX for this item
17. Nguyen, Khue V. "Lesch–Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA." Molecular genetics and metabolism 106.4 (2012): 498-501. Link to SFX for this item
18. Yamada, Y. "Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population." Nucleosides, nucleotides & nucleic acids 33.4-6 (2011): 1248-1255. Link to SFX for this item
19. Iglesias-Gamarra, A. "Osteonecrosis and Antiphospholipid Syndrome." Journal of clinical rheumatology 15.3 (2009): 130-132. Link to SFX for this item
20. Tsuji, A. "Hepatic sinusoidal membrane transport of anionic drugs mediated by anion transporter Npt1." The journal of pharmacology and experimental therapeutics (1998): 1391-1396. Link to SFX for this item
View More...
View Less...
Select All Clear All

Expand list of advanced services Advanced