Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder
CDKL5 5'非翻译区缺失会导致CDKL5缺乏症
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63843
Haviland, Isabel; Hector, Ralph D; Swanson, Lindsay C; Verran, Aubrie Soucy; Sherrill, Emma; Frazier, Zoë; Denny, AnneMarie M; Lucash, Jenna; Zhang, Bo; Dubbs, Holly A; Marsh, Eric D; Weisenberg, Judith L; Leonard, Helen; Crippa, Milena; Cogliati, Francesca; Russo, Silvia; Suter, Bernhard; Rajaraman, Rajsekar; Percy, Alan K; Schreiber, John M; Demarest, Scott; Benke, Timothy A; Chopra, Maya; Yu, Timothy W; Olson, Heather E