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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Xue, Jing-Yi; Wang, Zheng; Smithson, Sarah F; Burren, Christine P; Matsumoto, Naomichi; Nishimura, Gen; Ikegawa, Shiro; Guo, Long.
Afiliação
  • Xue JY; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Wang Z; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Smithson SF; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Burren CP; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
  • Matsumoto N; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.
  • Nishimura G; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Ikegawa S; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.
  • Guo L; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
J Hum Genet ; 66(4): 371-377, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33037392
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Receptor Ativador de Fator Nuclear kappa-B / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Receptor Ativador de Fator Nuclear kappa-B / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão