Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

Tay-Sachs disease is a lethal neurodegenerative disorder caused by deficiency of the lysosomal enzyme beta-hexosaminidase A and inherited in an autosomal recessive fashion; carriers of the disease are 10 times more frequent in the Ashkenazi Jewish community than in the general population. Over 90% o...

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Detaylı Bibliyografya
Asıl Yazarlar: Landels, E C, Ellis, I H, Fensom, A H, Green, P M, Bobrow, M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1991
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016801/
https://ncbi.nlm.nih.gov/pubmed/1828838
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