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Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

Deficiency of adenosine deaminase (ADA) is the cause of an autosomal recessive form of immunodeficiency. We sought to define, at a molecular level, the mutations responsible for ADA deficiency in the cell line GM-1715, derived from an immunodeficient patient. Full-length complementary DNA (cDNA) for...

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Autors principals: Bonthron, D T, Markham, A F, Ginsburg, D, Orkin, S H
Format: Artigo
Idioma:Inglês
Publicat: 1985
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC423929/
https://ncbi.nlm.nih.gov/pubmed/3839802
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