Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

Adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) deficiency is one cause of the genetic disease severe combined immunodeficiency. To identify mutations responsible for ADA deficiency, we synthesized cDNAs to ADA mRNAs from two cell lines, GM2756 and GM2825A, derived from ADA-deficient...

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Detalhes bibliográficos
Main Authors: Akeson, A L, Wiginton, D A, States, J C, Perme, C M, Dusing, M R, Hutton, J J
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC298980/
https://ncbi.nlm.nih.gov/pubmed/3475710
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