Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Tavares, Erika; Tang, Chen Yu; Vig, Anjali; Li, Shuning; Billingsley, Gail; Sung, Wilson; Vincent, Ajoy; Thiruvahindrapuram, Bhooma; Héon, Elise

Tavares, Erika; Tang, Chen Yu; Vig, Anjali; Li, Shuning; Billingsley, Gail; Sung, Wilson; Vincent, Ajoy; Thiruvahindrapuram, Bhooma; Héon, Elise.

Afiliação

Tavares E; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Tang CY; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Vig A; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Li S; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
Billingsley G; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Sung W; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Vincent A; The Centre for Applied Genomics, Hospital for Sick Children, Toronto, Ontario, Canada.
Thiruvahindrapuram B; Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
Héon E; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

Mol Genet Genomic Med ; 7(2): e00521, 2019 02.

Article em En | MEDLINE | ID: mdl-30484961

Assuntos

Síndrome de Bardet-Biedl/genética; Proteínas Associadas aos Microtúbulos/genética; Retroelementos; Adolescente; Síndrome de Bardet-Biedl/patologia; Feminino; Humanos; Mutação de Sentido Incorreto

Palavras-chave

BBS1; BBS; Bardet-Biedl syndrome; SVA; ciliopathy; human genome; mutation; repetitive element; transposable element

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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