Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
心肌蛋白功能缺失变异会导致人类和小鼠出现先天性巨膀胱。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI128545
Houweling, Arjan C; Beaman, Glenda M; Postma, Alex V; Gainous, T Blair; Lichtenbelt, Klaske D; Brancati, Francesco; Lopes, Filipa M; van der Made, Ingeborg; Polstra, Abeltje M; Robinson, Michael L; Wright, Kevin D; Ellingford, Jamie M; Jackson, Ashley R; Overwater, Eline; Genesio, Rita; Romano, Silvio; Camerota, Letizia; D'Angelo, Emanuela; Meijers-Heijboer, Elizabeth J; Christoffels, Vincent M; McHugh, Kirk M; Black, Brian L; Newman, William G; Woolf, Adrian S; Creemers, Esther E