Ashkenazi-Jewish and non-Jewish adult GM2 gangliosidosis patients share a common genetic defect.

The adult form of Tay-Sachs disease, adult GM2 gangliosidosis, is an autosomal recessive neurological disorder caused by a partial deficiency of beta-hexosaminidase A. We had previously identified, in Ashkenazi-Jewish adult GM2 gangliosidosis patients, a Gly269----Ser mutation in the beta-hexosamini...

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Detaylı Bibliyografya
Asıl Yazarlar: Navon, R, Kolodny, E H, Mitsumoto, H, Thomas, G H, Proia, R L
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683663/
https://ncbi.nlm.nih.gov/pubmed/2278539
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