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Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.
Cao, Yixuan; Guan, Xin; Li, Shan; Wu, Nan; Chen, Xiumin; Yang, Tao; Yang, Bo; Zhao, Xiuli.
Afiliação
  • Cao Y; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Guan X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Li S; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Chen X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Yang T; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
  • Yang B; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao X; Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China.
Mol Genet Genomic Med ; 10(5): e1916, 2022 05.
Article em En | MEDLINE | ID: mdl-35261200
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sulfato Adenililtransferase / Nanismo / Agrecanas / Complexos Multienzimáticos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sulfato Adenililtransferase / Nanismo / Agrecanas / Complexos Multienzimáticos Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos