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Genetic cause of a juvenile form of tay-sachs disease in a lebanese child

โœ Scribed by Rose-Mary N. Boustany; Akemi Tanaka; Junji Nishimoto; Dr Kunihiko Suzuki

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
460 KB
Volume
29
Category
Article
ISSN
0364-5134

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A glycine250 โ†’ aspartate substitution in
A glycine250 โ†’ aspartate substitution in the ฮฑ-subunit of hexosaminidase a causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family
โœ Isabelle Trop; Feige Kaplan; Charlotte Brown; Don Mahuran; Peter Hechtman ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 407 KB ๐Ÿ‘ 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