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Article

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

Human molecular genetics - 1 Feb 1999

Leeflang E P, Tavaré S, Marjoram P, Neal C O, Srinidhi J, MacFarlane H, MacDonald M E, Gusella J F, de Young M, Wexler N S, Arnheim N

Abstract excerpt

Trinucleotide repeat disease alleles can undergo 'dynamic' mutations in which repeat number may change when a gene is transmitted from parent to offspring. By typing >3500 sperm, we determined the size distribution of Huntington's disease (HD) germline mutations produced by 26 individuals from the Venezuelan cohort with CAG/CTG repeat numbers ranging from 37 to 62. Both the mutation frequency and mean change in...

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PMID: 9931325
DOI: 10.1093/hmg/8.2.173

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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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