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Tay-sachs disease in persons of French-Canadian heritage in northern New England

✍ Scribed by Palomaki, Glenn E. ;Williams, Josephine ;Haddow, James E. ;Natowicz, Marvin R.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
457 KB
Volume
56
Category
Article
ISSN
0148-7299

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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