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A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
Hasegawa, Kosei; Fukuhara, Rie; Moriwake, Tadashi; Tanaka, Hiroyuki; Higuchi, Yousuke; Yamashita, Miho; Tsukahara, Hirokazu.
Afiliação
  • Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Fukuhara R; Department of Neonatalogy, Hiroshima Prefectural Hospital, Hiroshima, Japan.
  • Moriwake T; Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, Japan.
  • Tanaka H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan.
  • Higuchi Y; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Yamashita M; Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
  • Tsukahara H; Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
Am J Med Genet A ; 170A(5): 1370-2, 2016 May.
Article em En | MEDLINE | ID: mdl-26754866
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos Tipo de estudo: Etiology_studies Limite: Female / Humans / Infant 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: Acondroplasia / Receptor Tipo 3 de Fator de Crescimento de Fibroblastos Tipo de estudo: Etiology_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2016 Tipo de documento: Article