ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
ITPase 缺乏会导致 Martsolf 样综合征,并伴有致命的婴儿扩张型心肌病
期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1007605
Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert