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Article

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Human mutation - 1 Aug 2003

Hoskins Bethan E, Thorn Anita, Scambler Peter J, Beales Philip L

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7). Inheritance in some families is complex with multiallelic participation making linkage analysis difficult. Previous mutation screens have been carrie...

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Source

Identifiers

PMID: 12872256
DOI: 10.1002/humu.10241

Genes

BBS2
BBS4
BBS1
BBS7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12872256-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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