Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
KIF20A基因的复合杂合功能缺失突变与两名兄弟姐妹罹患的一种新型致死性先天性心肌病相关。
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1007138
Louw, Jacoba J; Nunes Bastos, Ricardo; Chen, Xiaowen; Verdood, Céline; Corveleyn, Anniek; Jia, Yaojuan; Breckpot, Jeroen; Gewillig, Marc; Peeters, Hilde; Santoro, Massimo M; Barr, Francis; Devriendt, Koenraad
