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One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

We have cloned and sequenced an adenosine deaminase (ADA) gene from a patient with severe combined immunodeficiency (SCID) caused by inherited ADA deficiency. Two point mutations were found, resulting in amino acid substitutions at positions 80 (Lys to Arg) and 304 (Leu to Arg) of the protein. Hybri...

詳細記述

保存先:
書誌詳細
主要な著者: Valerio, D, Dekker, B M, Duyvesteyn, M G, van der Voorn, L, Berkvens, T M, van Ormondt, H, van der Eb, A J
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/PMC1166702/
https://ncbi.nlm.nih.gov/pubmed/3007108
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