A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.

Fibroblasts derived from a beta-hexosaminidase A (HexA)-deficient infant with clinically classic Tay-Sachs disease synthesized a precursor alpha-chain that was smaller than its normal counterpart. Fibroblasts from the infant's parents, who were consanguinous, produced both normal and mutant alp...

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Главные авторы: Zokaeem, G, Bayleran, J, Kaplan, P, Hechtman, P, Neufeld, E F
Формат: Artigo
Язык:Inglês
Опубликовано: 1987
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684151/
https://ncbi.nlm.nih.gov/pubmed/2954459
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