Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

We have determined the mutation in a child with partial adenosine deaminase (ADA) deficiency who is phenotypically homozygous for a mutant ADA gene encoding a heat-labile enzyme (Am. J. Hum. Genet. 38: 13-25). Sequencing of cDNA demonstrated a C to A transversion that results in the replacement of a...

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Publié dans:	J Clin Invest
Auteurs principaux:	Hirschhorn, R, Tzall, S, Ellenbogen, A, Orkin, S H
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1989
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303706/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2783588/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113909
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