Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.

Backwell, Lisa; Marsh, Joseph A

Backwell, Lisa; Marsh, Joseph A.

Afiliação

Backwell L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; email: joseph.marsh@ed.ac.uk.
Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; email: joseph.marsh@ed.ac.uk.

Annu Rev Genomics Hum Genet ; 23: 475-498, 2022 08 31.

Article em En | MEDLINE | ID: mdl-35395171

Assuntos

Dobramento de Proteína; Humanos; Mutação

Palavras-chave

activating mutations; dominant negative; gain of function; ligand binding; protein complexes; protein interactions

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dobramento de Proteína Limite: Humans Idioma: En Revista: Annu Rev Genomics Hum Genet Assunto da revista: GENETICA / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article

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