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Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Li, Xiyuan; Ding, Yuan; Liu, Yupeng; Ma, Yanyan; Song, Jinqing; Wang, Qiao; Li, Mengqiu; Qin, Yaping; Yang, Yanling.
Afiliação
  • Li X; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Ding Y; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Liu Y; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Ma Y; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Song J; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Wang Q; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
  • Li M; Similan Clinic, Beijing 100070, China.
  • Qin Y; Similan Clinic, Beijing 100070, China.
  • Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China. Electronic address: yanlingy@vip.sina.com.
Eur J Med Genet ; 58(11): 617-23, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26453840
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença da Urina de Xarope de Bordo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 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: Doença da Urina de Xarope de Bordo / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article