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The mutation mechanism causing juvenile-onset Tay-Sachs disease among Lebanese

✍ Scribed by P. Hechtman; B. Boulay; J. Bayleran; E. Andermann

Book ID
115089894
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
832 KB
Volume
35
Category
Article
ISSN
0009-9163

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The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexoaminidase A (Hex A) a-subunit. Sequencing

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Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. The disorder results from mutations in the gene encoding the ~-subunit of Γ„-hexosaminidase A, a lysosomal enzyme composed of ~ and Γ„ polypeptides. Seventy-eight mutations in the Hex A gene have been described