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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Hirschhorn, R, Tzall, S, Ellenbogen, A
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1990
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC54494/
https://ncbi.nlm.nih.gov/pubmed/2166947
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