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Article

Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

Clinical chemistry - 1 Jan 2010

Dosil Vanesa, Tosar Alicia, Cañadas Carmen, Pérez-Segura Pedro, Díaz-Rubio Eduardo, Caldés Trinidad, de la Hoya Miguel

Abstract excerpt

BACKGROUND: Deleterious mutations in BRCA1 (breast cancer 1, early onset; MIM 113705) increase breast and ovarian cancer [B(O)C] risk; however, many variants cannot be readily classified as deleterious or neutral. Unclassified variants (UVs) pose serious problems in genetic counseling. RNA-splicing analysis is essential for the assessment of many UVs. METHODS: Denaturing gradient gel electrophoresis was used to...

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PMID: 19892845
DOI: 10.1373/clinchem.2009.132274

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BRCA1

Variants

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