Publikationsdatum:
1980-05-30
Beschreibung:
The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Sparkes, M C -- Wilson, M G -- Towner, J W -- Benedict, W -- Murphree, A L -- Yunis, J J -- New York, N.Y. -- Science. 1980 May 30;208(4447):1042-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7375916" target="_blank"〉PubMed〈/a〉
Schlagwort(e):
Chromosome Deletion
;
Chromosome Mapping
;
*Chromosomes, Human, 13-15
;
Esterases/*genetics
;
Female
;
Genes
;
Humans
;
Intellectual Disability/enzymology/genetics
;
Male
;
Retinoblastoma/enzymology/*genetics
Print ISSN:
0036-8075
Digitale ISSN:
1095-9203
Thema:
Biologie
,
Chemie und Pharmazie
,
Informatik
,
Medizin
,
Allgemeine Naturwissenschaft
,
Physik
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