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Hot spot mutations in adenosine deaminase deficiency.

We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children with partial ADA deficiency. Six children shared common origins, suggesting a common progenitor. However, we found evidence for multiple phenotypically different mutant e...

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Bibliographic Details
Main Authors: Hirschhorn, R, Tzall, S, Ellenbogen, A
Format: Artigo
Language:Inglês
Published: 1990
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC54494/
https://ncbi.nlm.nih.gov/pubmed/2166947
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