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Article

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency.

Nature genetics - 1 Jul 1996

Hirschhorn R, Yang D R, Puck J M, Huie M L, Jiang C K, Kurlandsky L E

Abstract excerpt

Somatic mosaicism in genetic disease generally results from a de novo deleterious mutation during embryogenesis. We now describe a somatic mosaicism due to the unusual mechanism of in vivo reversion to normal of an inherited mutation. The propositus was an adenosine deaminase-deficient (ADA-) chi...

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Source

Identifiers

PMID: 8673127
DOI: 10.1038/ng0796-290

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8673127-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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