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Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.
Nishikawa, Takuro; Okamura, Ken; Moriyama, Mizuki; Watanabe, Kenji; Ibusuki, Atsuko; Sameshima, Seiji; Masamoto, Izumi; Yamazaki, Ieharu; Tanita, Kay; Kanekura, Takuro; Kanegane, Hirokazu; Suzuki, Tamio; Kawano, Yoshifumi.
Afiliação
  • Nishikawa T; Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Okamura K; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
  • Moriyama M; Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Watanabe K; Lalala Children's Clinic, Kagoshima, Japan.
  • Ibusuki A; Departments of, Department of, Dermatology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Sameshima S; Department of, Ophthalmology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Masamoto I; Department of, Laboratory Medicine, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Yamazaki I; Research Institute, BML Inc., Tokyo, Japan.
  • Tanita K; Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.
  • Kanekura T; Departments of, Department of, Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Kanegane H; Departments of, Department of, Dermatology, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima, Japan.
  • Suzuki T; Department of, Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Kawano Y; Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
J Dermatol ; 47(2): 185-189, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31820501
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Hermanski-Pudlak / Complexo 3 de Proteínas Adaptadoras / Subunidades beta do Complexo de Proteínas Adaptadoras Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Hermanski-Pudlak / Complexo 3 de Proteínas Adaptadoras / Subunidades beta do Complexo de Proteínas Adaptadoras Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Revista: J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido