Your browser doesn't support javascript.
loading
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaén, Alberto; Peeters, Els E A; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K.
Affiliation
  • Liang L; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Liu H; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Bartholdi D; Department of Human Genetics, Inselspital, University Hospital Bern, Bern, Switzerland.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
  • Fernandez-Jaén A; Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid, Spain.
  • Peeters EEA; Department of Child Neurology, Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands.
  • Xiong H; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Bai X; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Xu C; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Ke T; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
  • Wang QK; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Acta Physiol (Oxf) ; 235(1): e13800, 2022 05.
Article in En | MEDLINE | ID: mdl-35156297
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Epilepsy / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Acta Physiol (Oxf) Journal subject: FISIOLOGIA Year: 2022 Type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Epilepsy / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Acta Physiol (Oxf) Journal subject: FISIOLOGIA Year: 2022 Type: Article