Your browser doesn't support javascript.
loading
Identification of novel LFNG mutations in spondylocostal dysostosis.
Otomo, Nao; Mizumoto, Shuji; Lu, Hsing-Fang; Takeda, Kazuki; Campos-Xavier, Belinda; Mittaz-Crettol, Lauréane; Guo, Long; Takikawa, Kazuharu; Nakamura, Masaya; Yamada, Shuhei; Matsumoto, Morio; Watanabe, Kota; Ikegawa, Shiro.
Afiliação
  • Otomo N; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Mizumoto S; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Lu HF; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
  • Takeda K; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Campos-Xavier B; School of Pharmacy, Taipei Medical University, Taipei, Taiwan.
  • Mittaz-Crettol L; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Guo L; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Takikawa K; Division of Genetic Medicine, Center for Molecular Diseases, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Nakamura M; Division of Genetic Medicine, Center for Molecular Diseases, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Yamada S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.
  • Matsumoto M; Department of Orthopedics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Watanabe K; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Ikegawa S; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
J Hum Genet ; 64(3): 261-264, 2019 Mar.
Article em En | MEDLINE | ID: mdl-30531807
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Glicosiltransferases / Peptídeos e Proteínas de Sinalização Intracelular / Hérnia Diafragmática / Hexosiltransferases / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Glicosiltransferases / Peptídeos e Proteínas de Sinalização Intracelular / Hérnia Diafragmática / Hexosiltransferases / Proteínas de Membrana / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article