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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Bibliografiske detaljer
Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Akeson, A L, Wiginton, D A, States, J C, Perme, C M, Dusing, M R, Hutton, J J
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1987
Fag:
Research Article
Online adgang: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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