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A G to C transversion in codon 258 of the α-subunit of β-hexosaminidase a in an infant Tay-Sachs disease patient

✍ Scribed by Kathleen K. Brewer


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
133 KB
Volume
2
Category
Article
ISSN
1059-7794

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✍ Isabelle Trop; Feige Kaplan; Charlotte Brown; Don Mahuran; Peter Hechtman 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 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