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Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.
Fackenthal, James D; Lee, Younghee; Olopade, Olufunmilayo I.
Afiliação
  • Fackenthal JD; Center for Clinical Cancer Genetics and Global Health, The University of Chicago Medical Center, Chicago, IL 60637, USA.
Clin Cancer Res ; 18(18): 4865-7, 2012 Sep 15.
Article em En | MEDLINE | ID: mdl-22869870
ABSTRACT
The first mutation that disrupts BRCA2 mRNA by including a novel, cryptic exon is reported in this issue. The mutation lies deep within an intron and would not have been detected by conventional screening methods. In the future, more mutations may be discovered by direct mRNA analysis.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Éxons / Processamento Alternativo / Genes BRCA2 / Mutação Limite: Female / Humans Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Íntrons / Éxons / Processamento Alternativo / Genes BRCA2 / Mutação Limite: Female / Humans Idioma: En Ano de publicação: 2012 Tipo de documento: Article