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A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
Numata, Sanae; Teye, Kwesi; Krol, Rafal P; Okamatsu, Yuki; Hashikawa, Keiko; Matsuda, Mitsuhiro; Fortugno, Paola; Di Zenzo, Giovanni; Castiglia, Daniele; Zambruno, Giovanna; Hamada, Takahiro; Hashimoto, Takashi.
Afiliação
  • Numata S; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Teye K; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Krol RP; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Okamatsu Y; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Hashikawa K; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Matsuda M; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Fortugno P; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
  • Di Zenzo G; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
  • Castiglia D; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
  • Zambruno G; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
  • Hamada T; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
  • Hashimoto T; Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
Exp Dermatol ; 25(7): 568-70, 2016 07.
Article em En | MEDLINE | ID: mdl-26997095
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Netherton / Inibidor de Serinopeptidase do Tipo Kazal 5 Tipo de estudo: Etiology_studies Limite: Humans / Male / Newborn Idioma: En Revista: Exp Dermatol 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: Síndrome de Netherton / Inibidor de Serinopeptidase do Tipo Kazal 5 Tipo de estudo: Etiology_studies Limite: Humans / Male / Newborn Idioma: En Revista: Exp Dermatol Ano de publicação: 2016 Tipo de documento: Article