Your browser doesn't support javascript.
loading
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.
Tao, Yilun; Han, Dong; Li, Xiyuan; Wang, Lihong; Yue, Lili; Huang, Chenggang; Lu, Dandan; Li, Xiaoze.
Affiliation
  • Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Li X; Precision Medicine Center, General Hospital of Tianjin Medical University, Tianjin 300020, China.
  • Wang L; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Yue L; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Huang C; Zhejiang Biosan Biochemical Technologies Co., Ltd., 77 Xueyuan Road, Hangzhou, Zhejiang 310000, China.
  • Lu D; Zhejiang Biosan Biochemical Technologies Co., Ltd., 77 Xueyuan Road, Hangzhou, Zhejiang 310000, China.
  • Li X; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China. Electronic address: lixiaoze520@126.com.
Clin Chim Acta ; 509: 8-17, 2020 Oct.
Article in En | MEDLINE | ID: mdl-32485156
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purpura / Neurodegenerative Diseases / Nucleocytoplasmic Transport Proteins / Mitochondrial Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: Clin Chim Acta Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Purpura / Neurodegenerative Diseases / Nucleocytoplasmic Transport Proteins / Mitochondrial Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Newborn Country/Region as subject: Asia Language: En Journal: Clin Chim Acta Year: 2020 Document type: Article Affiliation country: