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Article

Hot spot mutations in adenosine deaminase deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1990

Hirschhorn R, Tzall S, Ellenbogen A

Abstract excerpt

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 enzymes. We hypothesized that many of the mutations would be at CpG dinucleotides, hot spots at which spontaneous...

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Source

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Identifiers

PMID: 2166947
DOI: 10.1073/pnas.87.16.6171
PMCID: PMC54494

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hot spot mutations in adenosine deaminase deficiency.PMID 2166947Read ↗

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