Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.

Backers, Lynn; Parton, Bram; De Bruyne, Marieke; Tavernier, Simon J; Van Den Bogaert, Kris; Lambrecht, Bart N; Haerynck, Filomeen; Claes, Kathleen B M

Backers, Lynn; Parton, Bram; De Bruyne, Marieke; Tavernier, Simon J; Van Den Bogaert, Kris; Lambrecht, Bart N; Haerynck, Filomeen; Claes, Kathleen B M.

Afiliação

Backers L; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Parton B; Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.
De Bruyne M; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Tavernier SJ; Cancer Research Institute Ghent (CRIG), Ghent University, Ghent, Belgium.
Van Den Bogaert K; Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium.
Lambrecht BN; Unit of Molecular Signal Transduction in Inflammation, VIB-UGent Center for Inflammation Research, Ghent, Belgium.
Haerynck F; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.
Claes KBM; Center for Human Genetics, University Hospitals Leuven - Catholic University Leuven, Leuven, Belgium.

Clin Genet ; 99(2): 292-297, 2021 02.

Article em En | MEDLINE | ID: mdl-33073370

Assuntos

Síndrome de Bloom/genética; Códon sem Sentido; Íntrons/genética; RecQ Helicases/genética; Éxons/genética; Heterozigoto; Humanos; Padrões de Herança; Masculino; Linhagem; Fenótipo; Adulto Jovem

Palavras-chave

BLM; Bloom syndrome; RECQL3; cDNA analysis; deep intronic variant; missing heritability; non-coding variant; pseudo-exon activation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Bloom / Íntrons / Códon sem Sentido / RecQ Helicases Limite: Adult / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article

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