A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Deficient activity of beta-hexosaminidase A (Hex A), resulting from mutations in the HEXA gene, typically causes Tay-Sachs disease. However, healthy individuals lacking Hex A activity against synthetic substrates (i.e., individuals who are pseudodeficient) have been described. Recently, an apparentl...

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Detalhes bibliográficos
Main Authors: Cao, Z, Natowicz, M R, Kaback, M M, Lim-Steele, J S, Prence, E M, Brown, D, Chabot, T, Triggs-Raine, B L
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682498/
https://ncbi.nlm.nih.gov/pubmed/7902672
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