Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Serum and leukocyte hexosaminidase profiles (total activity and percent heat-labile activity levels) in obligate Sandhoff disease (SHD) heterozygotes differ from those of obligate Tay-Sachs disease (TSD) heterozygotes and noncarrier individuals. We have developed a procedure to identify, with 95% se...

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Библиографические подробности
Главные авторы: Cantor, R M, Lim, J S, Roy, C, Kaback, M M
Формат: Artigo
Язык:Inglês
Опубликовано: 1985
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684685/
https://ncbi.nlm.nih.gov/pubmed/4050790
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