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Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.
Shigehara, Yohya; Okuda, Shujiro; Nemer, Georges; Chedraoui, Adele; Hayashi, Ryota; Bitar, Fadi; Nakai, Hiroyuki; Abbas, Ossama; Daou, Laetitia; Abe, Riichiro; Sleiman, Maria Bou; Kibbi, Abdul Ghani; Kurban, Mazen; Shimomura, Yutaka.
Afiliação
  • Shigehara Y; Divisions of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Okuda S; Division of Bioinformatics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Nemer G; Biochemistry & molecular genetics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Chedraoui A; Department of Dermatology, Lebanese American University-Hospital Rizk, Beirut, Lebanon.
  • Hayashi R; Divisions of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Bitar F; Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Nakai H; Faculty of Agriculture, Niigata University, Niigata, Japan.
  • Abbas O; Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
  • Daou L; Department of Laboratory medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Abe R; Divisions of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Sleiman MB; Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
  • Kibbi AG; Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
  • Kurban M; Biochemistry & molecular genetics, American University of Beirut Medical Center, Beirut, Lebanon.
  • Shimomura Y; Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
Hum Mol Genet ; 25(20): 4484-4493, 2016 10 15.
Article em En | MEDLINE | ID: mdl-28173123

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Pele / Expressão Gênica / Mutação de Sentido Incorreto / Ictiose Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Pele / Expressão Gênica / Mutação de Sentido Incorreto / Ictiose Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article