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Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes.
Faraji Zonooz, Mehrshid; Sabbagh-Kermani, Farahnaz; Fattahi, Zohreh; Fadaee, Mahsa; Akbari, Mohammad Reza; Amiri, Rezvan; Vahidnezhad, Hassan; Uitto, Jouni; Najmabadi, Hossein; Kariminejad, Ariana.
Afiliação
  • Faraji Zonooz M; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
  • Sabbagh-Kermani F; Clinical Research Unit, Afzalipoor Hospital, Kerman University of Medical Sciences, Kerman, Iran.
  • Fattahi Z; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Fadaee M; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Akbari MR; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada; Women's College Research Institute, University of Toronto, Toronto, Canada.
  • Amiri R; Leishmaniasis Research Center, Kerman University of Medical Sciences, Kerman, Iran.
  • Vahidnezhad H; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
  • Najmabadi H; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
  • Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. Electronic address: arianakariminejad@yahoo.com.
J Invest Dermatol ; 136(6): 1283-1286, 2016 06.
Article em En | MEDLINE | ID: mdl-26968259
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Hidradenite Supurativa / Secretases da Proteína Precursora do Amiloide / Sequenciamento do Exoma / Ligação Genética Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Hidradenite Supurativa / Secretases da Proteína Precursora do Amiloide / Sequenciamento do Exoma / Ligação Genética Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article