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Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
Zhang, Yan; Yang, Weikang; Wen, Guoming; Wu, Yanxia; Jing, Zhiliang; Li, Dazhou; Tang, Minshan; Liu, Guanglong; Wei, Xuxuan; Zhong, Yan; Li, Yanhua; Deng, Yongjian.
Afiliação
  • Zhang Y; Department of Pathology, Shenzhen Longhua District Maternity & Child Healthcare Hospital, Shenzhen, P.R. China.
  • Yang W; Department of Prevention and health care, Shenzhen Longhua District Maternity & Child Healthcare Hospital, Shenzhen, China.
  • Wen G; Department of Outpatient, Shenzhen Longhua District Maternity and Child Healthcare Hospital, Shenzhen, China.
  • Wu Y; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Jing Z; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Li D; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Tang M; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Liu G; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Wei X; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
  • Zhong Y; Department of Pathology, Shenzhen Longhua District Maternity & Child Healthcare Hospital, Shenzhen, P.R. China.
  • Li Y; Department of Pathology, Shenzhen Longhua District Maternity & Child Healthcare Hospital, Shenzhen, P.R. China.
  • Deng Y; Department of Pathology, Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University, Guangzhou, P.R. China.
Mol Genet Genomic Med ; 7(5): e622, 2019 05.
Article em En | MEDLINE | ID: mdl-30938079
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article