Your browser doesn't support javascript.
loading
Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia.
Yuan, Haiming; Wang, Qingming; Li, Yufeng; Cheng, Shuangxi; Liu, Jianxin; Liu, Yanhui.
Affiliation
  • Yuan H; Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.
  • Wang Q; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China.
  • Li Y; Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.
  • Cheng S; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China.
  • Liu J; Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.
  • Liu Y; Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.
BMC Med Genet ; 21(1): 93, 2020 05 06.
Article in En | MEDLINE | ID: mdl-32375772
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: Epilepsy, Generalized / Epilepsies, Myoclonic / Genetic Predisposition to Disease / Myopia Type of study: Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Epilepsies, Myoclonic / Genetic Predisposition to Disease / Myopia Type of study: Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: BMC Med Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China Country of publication: United kingdom