Diagnostic mRNA splicing assay for variants in <i>BRCA1</i> and <i>BRCA2</i> identified two novel pathogenic splicing aberrations.

Wangensteen, Teresia; Felde, Caroline Nangota; Ahmed, Deeqa; Mæhle, Lovise; Ariansen, Sarah Louise

Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.

Wangensteen, Teresia; Felde, Caroline Nangota; Ahmed, Deeqa; Mæhle, Lovise; Ariansen, Sarah Louise.

Afiliação

Wangensteen T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Felde CN; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Ahmed D; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Mæhle L; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Ariansen SL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Hered Cancer Clin Pract ; 17: 14, 2019.

Article em En | MEDLINE | ID: mdl-31143303

Palavras-chave

BRCA1; BRCA2; RT-PCR; Splicing; Variant classification; Variant of unknown significance; mRNA

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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Hered Cancer Clin Pract Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Noruega

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