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Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.
Moosa, S; Chung, B H-Y; Tung, J Y-L; Altmüller, J; Thiele, H; Nürnberg, P; Netzer, C; Nishimura, G; Wollnik, B.
Afiliação
  • Moosa S; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Chung BH; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Tung JY; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Altmüller J; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Thiele H; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China.
  • Nürnberg P; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, China.
  • Netzer C; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Nishimura G; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Wollnik B; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Clin Genet ; 89(4): 517-519, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26467156
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article