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Article

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

Human mutation - 1 Feb 2004

Houdayer C, Gauthier-Villars M, Laugé A, Pagès-Berhouet S, Dehainault C, Caux-Moncoutier V, Karczynski P, Tosi M, Doz F, Desjardins L, Couturier J, Stoppa-Lyonnet D

Abstract excerpt

Constitutional mutations of the RB1 gene are associated with a predisposition to retinoblastoma. It is essential to identify these mutations to provide appropriate genetic counseling in retinoblastoma patients, but this represents an extremely challenging task, as the vast majority of mutations a...

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Identifiers

PMID: 14722923
DOI: 10.1002/humu.10303

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722923-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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