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Article

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

BMC genetics - 4 Nov 2005

Valverde José R, Alonso Javier, Palacios Itziar, Pestaña Angel

Abstract excerpt

BACKGROUND: Retinoblastoma, a prototype of hereditary cancer, is the most common intraocular tumour in children and potential cause of blindness from therapeutic eye ablation, second tumours in germ line carrier's survivors, and even death when left untreated. The molecular scanning of RB1 in search of germ line mutations lead to the publication of more than 900 mutations whose knowledge is important for genetic...

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Identifiers

PMID: 16269091
DOI: 10.1186/1471-2156-6-53
PMCID: PMC1298292

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