Excess of rare, inherited truncating mutations in autism.

Krumm, Niklas; Turner, Tychele N; Baker, Carl; Vives, Laura; Mohajeri, Kiana; Witherspoon, Kali; Raja, Archana; Coe, Bradley P; Stessman, Holly A; He, Zong-Xiao; Leal, Suzanne M; Bernier, Raphael; Eichler, Evan E

Krumm, Niklas; Turner, Tychele N; Baker, Carl; Vives, Laura; Mohajeri, Kiana; Witherspoon, Kali; Raja, Archana; Coe, Bradley P; Stessman, Holly A; He, Zong-Xiao; Leal, Suzanne M; Bernier, Raphael; Eichler, Evan E.

Afiliação

Krumm N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Baker C; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Vives L; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Mohajeri K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Witherspoon K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Raja A; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.
Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
Stessman HA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA.
He ZX; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
Eichler EE; 1] Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

Nat Genet ; 47(6): 582-8, 2015 Jun.

Article em En | MEDLINE | ID: mdl-25961944

Assuntos

Transtorno Autístico/genética; Códon sem Sentido; Variações do Número de Cópias de DNA; Exoma; Feminino; Estudos de Associação Genética; Predisposição Genética para Doença; Humanos; Desequilíbrio de Ligação; Masculino; Polimorfismo de Nucleotídeo Único; Risco

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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