A glycine250 → aspartate substitution in
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Isabelle Trop; Feige Kaplan; Charlotte Brown; Don Mahuran; Peter Hechtman
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Article
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1992
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John Wiley and Sons
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English
⚖ 407 KB
👁 1 views
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