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Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.

Complete genetic deficiency of adenosine deaminase (ADA) results in a fatal syndrome of severe combined immunodeficiency (SCID). Genetic partial deficiency of ADA, with no detectable enzyme activity in erythrocytes but with variable amounts of enzyme activity detectable in other cells, is usually as...

詳細記述

保存先:
書誌詳細
主要な著者: Hirschhorn, R, Ellenbogen, A
フォーマット: Artigo
言語:Inglês
出版事項: 1986
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684708/
https://ncbi.nlm.nih.gov/pubmed/3946419
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