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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Publié dans:	Proc Natl Acad Sci U S A
Auteurs principaux:	Akeson, A L, Wiginton, D A, States, J C, Perme, C M, Dusing, M R, Hutton, J J
Format:	Artigo
Langue:	Inglês
Publié:	National Academy of Sciences 1987
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298980/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3475710/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.84.16.5947
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