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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.
Turner, Tychele N; Douville, Christopher; Kim, Dewey; Stenson, Peter D; Cooper, David N; Chakravarti, Aravinda; Karchin, Rachel.
Afiliação
  • Turner TN; Predoctoral Training Program in Human Genetics and Molecular Biology, McKusick-Nathans Institute of Genetic Medicine, Center for Complex Disease Genomics.
  • Douville C; Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210, USA and.
  • Kim D; Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210, USA and.
  • Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
  • Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
  • Chakravarti A; Center for Complex Disease Genomics.
  • Karchin R; Department of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, MD 21210, USA and Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA, karchin@jhu.edu.
Hum Mol Genet ; 24(21): 5995-6002, 2015 Nov 01.
Article em En | MEDLINE | ID: mdl-26246501
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Mutação de Sentido Incorreto / Genes Dominantes / Genes Recessivos / Doenças Genéticas Inatas Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Mutação de Sentido Incorreto / Genes Dominantes / Genes Recessivos / Doenças Genéticas Inatas Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article