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Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
Song, Hae-Ryong; Lee, Kwang-Soo; Li, Qi-Wei; Koo, Soo Kyung; Jung, Sung-Chul.
Afiliação
  • Song HR; Department of Orthopaedic Surgery, School of Medicine, Gyeongsang National University, Chilam-Dong, Chinju 660-702, Korea.
  • Lee KS; Division of Genetic Disease, Department of Biomedical Science, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Gu, Seoul 122-701, Korea.
  • Li QW; Department of Orthopaedic Surgery, School of Medicine, Gyeongsang National University, Chilam-Dong, Chinju 660-702, Korea.
  • Koo SK; Division of Genetic Disease, Department of Biomedical Science, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Gu, Seoul 122-701, Korea.
  • Jung SC; Division of Genetic Disease, Department of Biomedical Science, National Institute of Health, 5 Nokbun-Dong, Eunpyung-Gu, Seoul 122-701, Korea. scjung@nih.go.kr.
J Hum Genet ; 48(5): 222-225, 2003.
Article em En | MEDLINE | ID: mdl-12768438
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Glicoproteínas / Proteínas da Matriz Extracelular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2003 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Glicoproteínas / Proteínas da Matriz Extracelular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2003 Tipo de documento: Article