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A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho, Thuong Thi; Tran, Linh Huyen; Hoang, Lan Thu; Doan, Phuong Kim Thi; Nguyen, Trang Thi; Nguyen, Trang Hong; Tran, Hoai Thu; Hoang, Ha; Chu, Ha Hoang; Luong, Anh Lan Thi.
Afiliação
  • Ho TT; National Key Laboratory of Gene Technology, Institute of Biotechnology (IBT), Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Ha Noi, Viet Nam.
  • Tran LH; National Key Laboratory of Gene Technology, Institute of Biotechnology (IBT), Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Ha Noi, Viet Nam.
  • Hoang LT; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Ha Noi, Viet Nam.
  • Doan PKT; Department of Biology & Medical Genetic, Hanoi Medical University, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Nguyen TT; Genetic Counseling Center, Hanoi Medical University Hospital, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Nguyen TH; Department of Biology & Medical Genetic, Hanoi Medical University, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Tran HT; Genetic Counseling Center, Hanoi Medical University Hospital, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Hoang H; Department of Biology & Medical Genetic, Hanoi Medical University, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Chu HH; Genetic Counseling Center, Hanoi Medical University Hospital, 1 Ton That Tung, Dong Da, Ha Noi, Viet Nam.
  • Luong ALT; National Key Laboratory of Gene Technology, Institute of Biotechnology (IBT), Vietnam Academy of Science and Technology (VAST), 18 Hoang Quoc Viet, Cau Giay, Ha Noi, Viet Nam.
BMC Musculoskelet Disord ; 21(1): 216, 2020 Apr 07.
Article em En | MEDLINE | ID: mdl-32264862
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: BMC Musculoskelet Disord Assunto da revista: FISIOLOGIA / ORTOPEDIA Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mutação de Sentido Incorreto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: BMC Musculoskelet Disord Assunto da revista: FISIOLOGIA / ORTOPEDIA Ano de publicação: 2020 Tipo de documento: Article