Metabolites downstream of predicted loss-of-function variants inform relationship to disease.

Li, Mengbo; Wang, Andy; Quek, Lake-Ee; Vernon, Stephen; Figtree, Gemma A; Yang, Jean; O'Sullivan, John F

Li, Mengbo; Wang, Andy; Quek, Lake-Ee; Vernon, Stephen; Figtree, Gemma A; Yang, Jean; O'Sullivan, John F.

Afiliação

Li M; The University of Sydney, School of Mathematics and Statistics, Sydney, NSW 2006, Australia; The University of Sydney, Charles Perkins Centre, Sydney, NSW 2065, Australia.
Wang A; The University of Sydney, School of Mathematics and Statistics, Sydney, NSW 2006, Australia; The University of Sydney, Royal North Shore Hospital, Sydney, NSW 2065, Australia.
Quek LE; The University of Sydney, School of Mathematics and Statistics, Sydney, NSW 2006, Australia.
Vernon S; The University of Sydney, Royal North Shore Hospital, Sydney, NSW 2065, Australia; The University of Sydney, Kolling Research Institute, Royal North Shore Hospital, Sydney, NSW 2064, Australia.
Figtree GA; The University of Sydney, Royal North Shore Hospital, Sydney, NSW 2065, Australia; The University of Sydney, Kolling Research Institute, Royal North Shore Hospital, Sydney, NSW 2064, Australia.
Yang J; The University of Sydney, School of Mathematics and Statistics, Sydney, NSW 2006, Australia; The University of Sydney, Charles Perkins Centre, Sydney, NSW 2065, Australia.
O'Sullivan JF; The University of Sydney, Charles Perkins Centre, Sydney, NSW 2065, Australia; The University of Sydney, Heart Research Institute, Sydney, NSW 2042, Australia; The University of Sydney, Department of Cardiology, Royal Prince Alfred Hospital, NSW 2050, Australia. Electronic address: john.osullivan@sy

Mol Genet Metab ; 128(4): 476-482, 2019 12.

Article em En | MEDLINE | ID: mdl-31679996

Assuntos

Metabolismo Energético; Estudos de Associação Genética; Predisposição Genética para Doença; Mutação com Perda de Função; Fenótipo; Alelos; Biomarcadores; Pressão Sanguínea; Frequência do Gene; Estudos de Associação Genética/métodos; Histamina/metabolismo; Humanos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Predisposição Genética para Doença / Metabolismo Energético / Estudos de Associação Genética / Mutação com Perda de Função Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Mol Genet Metab Ano de publicação: 2019 Tipo de documento: Article

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