Your browser doesn't support javascript.
loading
Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease.
Ma, Shujun; Zhang, Zhongxin; Fu, Yanyan; Zhang, Mingxia; Niu, Yuna; Li, Ruiguang; Guo, Qinghe; He, Zhian; Zhao, Qingwei; Song, Zhishan; Wang, Xia; Sun, Ruili.
Afiliación
  • Ma S; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China; Henan Key Laboratory of Immunology and Targeted Drugs, School of Laboratory Medicine, Xinxiang Medical University, China. Electronic address: msjde
  • Zhang Z; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Fu Y; The Second Affiliated Hospital of Xinxiang Medical University, Xinxiang 453003, China.
  • Zhang M; Xinxiang Maternity and Child Care Hospital, Xinxiang 453003, China.
  • Niu Y; Henan Key Laboratory of Immunology and Targeted Drugs, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Li R; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Guo Q; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • He Z; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Zhao Q; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Song Z; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Wang X; Henan Collaborative Innovation Center of Molecular Diagnosis and Laboratory Medicine, School of Laboratory Medicine, Xinxiang Medical University, China.
  • Sun R; Henan Key Laboratory of Immunology and Targeted Drugs, School of Laboratory Medicine, Xinxiang Medical University, China.
Clin Chim Acta ; 517: 23-30, 2021 Jun.
Article en En | MEDLINE | ID: mdl-33607070
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de la Orina de Jarabe de Arce Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Clin Chim Acta Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de la Orina de Jarabe de Arce Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Clin Chim Acta Año: 2021 Tipo del documento: Article Pais de publicación: Países Bajos