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Article

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Science (New York, N.Y.) - 1 Aug 2003

Goriely Anne, McVean Gilean A T, Röjmyr Maria, Ingemarsson Björn, Wilkie Andrew O M

Abstract excerpt

Observed mutation rates in humans appear higher in male than female gametes and often increase with paternal age. This bias, usually attributed to the accumulation of replication errors or inefficient repair processes, has been difficult to study directly. Here, we describe a sensitive method to quantify substitutions at nucleotide 755 of the fibroblast growth factor receptor 2 (FGFR2) gene in sperm. Although...

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Share to Acrocephalosyndactylia
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Source

Identifiers

PMID: 12893942
DOI: 10.1126/science.1085710

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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