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Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Yang, Aram; Kim, Jinsup; Jang, Ja-Hyun; Lee, Chung; Lee, Ji-Eun; Cho, Sung Yoon; Jin, Dong-Kyu.
Afiliação
  • Yang A; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Kim J; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Jang JH; Green Cross Genome, Yongin-si, Republic of Korea.
  • Lee C; Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Samsung Genome Institute, Samsung Medical Center, Seoul, Republic of Korea.
  • Lee JE; Department of Pediatrics, Inha University Hospital, Inha University Graduate School of Medicine, Incheon, Republic of Korea.
  • Cho SY; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • Jin DK; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Ann Hum Genet ; 83(3): 160-170, 2019 05.
Article em En | MEDLINE | ID: mdl-30730578
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exostose Múltipla Hereditária / Mutação da Fase de Leitura / N-Acetilglucosaminiltransferases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exostose Múltipla Hereditária / Mutação da Fase de Leitura / N-Acetilglucosaminiltransferases Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2019 Tipo de documento: Article