Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.
作者信息
Endris Volker, Hackmann Karl, Neuhann Teresa M, Grasshoff Ute, Bonin Michael, Haug Ulrich, Hahn Gabriele, Schallner Jens C, Schröck Evelin, Tinschert Sigrid, Rappold Gudrun, Moog Ute
机构信息
Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
出版信息
Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692.
PMID:20979196
Abstract
摘要
Zotero 插件