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The cherry-red spot in Tay-Sachs and other storage diseases

โœ Scribed by Dr Jane D. Kivlin; George E. Sanborn; Garth G. Myers

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
467 KB
Volume
17
Category
Article
ISSN
0364-5134

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โœ Rachel Myerowitz ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 187 KB ๐Ÿ‘ 1 views

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 ร„-hexosaminidase A, a lysosomal enzyme composed of ~ and ร„ polypeptides. Seventy-eight mutations in the Hex A gene have been described