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Article

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication.

Human mutation - 1 Dec 2007

Sheen Campbell R, Jewell Ursula R, Morris Christine M, Brennan Stephen O, Férec Claude, George Peter M, Smith Mark P, Chen Jian-Min

Abstract excerpt

Genomic rearrangements are a well-recognized cause of genetic disease and can be formed by a variety of mechanisms. We report a complex rearrangement causing severe hemophilia A, identified and further characterized using a range of PCR-based methods, and confirmed using array-comparative genomic hybridization (array-CGH). This rearrangement consists of a 15.5-kb deletion/16-bp insertion located 0.6 kb from a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17683067
DOI: 10.1002/humu.20591

Genes

FUNDC2
HSFX1
MAGEA11
MAGEA9

Provenance

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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