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Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype.
Kurolap, Alina; Eshach-Adiv, Orly; Gonzaga-Jauregui, Claudia; Dolnikov, Katya; Mory, Adi; Paperna, Tamar; Hershkovitz, Tova; Overton, John D; Kaplan, Marielle; Glaser, Fabian; Zohar, Yaniv; Shuldiner, Alan R; Berger, Gidon; Baris, Hagit N.
Afiliação
  • Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Eshach-Adiv O; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Gonzaga-Jauregui C; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Dolnikov K; Pediatric Gastroenterology and Pediatrics B, Rambam Health Care Campus, Haifa, Israel.
  • Mory A; Regeneron Genetics Center, Tarrytown, New York, USA.
  • Paperna T; Department of Internal Medicine B, Rambam Health Care Campus, Haifa, Israel.
  • Hershkovitz T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Overton JD; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Kaplan M; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
  • Glaser F; Regeneron Genetics Center, Tarrytown, New York, USA.
  • Zohar Y; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Shuldiner AR; Laboratory of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel.
  • Berger G; Bioinformatics Knowledge Unit, The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion-Israel Institute of Technology, Haifa, Israel.
  • Baris HN; Institute of Pathology, Rambam Health Care Campus, Haifa, Israel.
J Med Genet ; 55(11): 779-784, 2018 11.
Article em En | MEDLINE | ID: mdl-29875123
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Enteropatias Perdedoras de Proteínas / Proteínas de Transporte / Mutação de Sentido Incorreto / Estudos de Associação Genética / Homozigoto / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Enteropatias Perdedoras de Proteínas / Proteínas de Transporte / Mutação de Sentido Incorreto / Estudos de Associação Genética / Homozigoto / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article