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Article

Haplotypic determinants of instability in the FRAX region: Concatenated mutation or founder effect?

Human mutation - 1 Jan 2001

Ennis S, Murray A, Morton N E

Abstract excerpt

The fragile X triplet repeat expansion at Xq27.3 has been shown to be associated with mutation or instability 600 kb distal at the FMR2 repeat locus. Concatenated mutation, whereby a mutation at one locus somehow interacts with mutation, recombination, deletion, or transposition at another locus, is a possible explanation. In this study we examine evidence from a sample of over 7,000 independent haplotypes from...

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Identifiers

PMID: 11438994
DOI: 10.1002/humu.1150

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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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