Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

Ardui, Simon; Race, Valerie; de Ravel, Thomy; Van Esch, Hilde; Devriendt, Koenraad; Matthijs, Gert; Vermeesch, Joris R

Ardui, Simon; Race, Valerie; de Ravel, Thomy; Van Esch, Hilde; Devriendt, Koenraad; Matthijs, Gert; Vermeesch, Joris R.

Afiliação

Ardui S; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Race V; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
de Ravel T; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Devriendt K; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Matthijs G; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
Vermeesch JR; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.

Front Genet ; 9: 150, 2018.

Article em En | MEDLINE | ID: mdl-29868108

Palavras-chave

AGG interruptions; CGG repeat; FMR1; fragile X premutation; fragile X syndrome; genetic counseling; single-molecule real-time sequencing

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Bélgica