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Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population.

There appear to be several alleles of the hexosaminidase A (HEX A) gene that lead to different clinical syndromes. In addition to the infantile-onset Tay-Sachs disease (TSD), there is a juvenile-onset and an adult-onset form, which are also characterized by low HEX A levels. There are also apparentl...

詳細記述

保存先:
書誌詳細
主要な著者: Greenberg, D A, Kaback, M M
フォーマット: Artigo
言語:Inglês
出版事項: 1982
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685349/
https://ncbi.nlm.nih.gov/pubmed/6211091
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