Hot spot mutations in adenosine deaminase deficiency.

doi:10.1073/pnas.87.16.6171

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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...

Topics

Adenosine Deaminase
Base Sequence
Cell Line
Cell Transformation, Viral
Child
DNA
DNA Probes
Dinucleoside Phosphates
Gene Library
Genotype
Herpesvirus 4, Human
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Nucleic Acid Hybridization

Nucleoside Deaminases

Phenotype

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

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

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2166947-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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