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In vivo bioassay to test the pathogenicity of missense human AIP variants.
Aflorei, Elena Daniela; Klapholz, Benjamin; Chen, Chenghao; Radian, Serban; Dragu, Anca Neluta; Moderau, Nina; Prodromou, Chrisostomos; Ribeiro, Paulo S; Stanewsky, Ralf; Korbonits, Márta.
Afiliação
  • Aflorei ED; Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Klapholz B; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.
  • Chen C; Department of Cell and Developmental Biology, Division of Biosciences, Faculty of Life Sciences, University College London, London, UK.
  • Radian S; Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Dragu AN; Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
  • Moderau N; Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
  • Prodromou C; Department of Cell and Developmental Biology, Division of Biosciences, Faculty of Life Sciences, University College London, London, UK.
  • Ribeiro PS; Protein Dynamics and Cell Signalling Laboratory, Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
  • Stanewsky R; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.
  • Korbonits M; Protein Dynamics and Cell Signalling Laboratory, Centre for Tumour Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.
J Med Genet ; 55(8): 522-529, 2018 08.
Article em En | MEDLINE | ID: mdl-29632148
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intracelular / Estudos de Associação Genética Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Mutação de Sentido Incorreto / Peptídeos e Proteínas de Sinalização Intracelular / Estudos de Associação Genética Idioma: En Ano de publicação: 2018 Tipo de documento: Article