Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.

Petersen, Ulrika S S; Doktor, Thomas K; Andresen, Brage S

Petersen, Ulrika S S; Doktor, Thomas K; Andresen, Brage S.

Afiliação

Petersen USS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Doktor TK; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.

Hum Mutat ; 43(2): 103-127, 2022 02.

Article em En | MEDLINE | ID: mdl-34837434

Assuntos

Genoma Humano; Sítios de Splice de RNA; Éxons/genética; Genoma Humano/genética; Humanos; Íntrons/genética; Sítios de Splice de RNA/genética; Splicing de RNA/genética; RNA Mensageiro/genética

Palavras-chave

RNA sequencing; aberrant splicing; deep intronic sequence variants; human genome; pre-mRNA splicing; pseudoexon

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genoma Humano / Sítios de Splice de RNA Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google