Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
编码小电导钙激活钾通道SK3的KCNN3基因的功能获得性突变导致齐默尔曼-拉班德综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.04.012
Christiane K Bauer,Pauline E Schneeberger,Fanny Kortüm,Janine Altmüller,Fernando Santos-Simarro,Laura Baker,Jennifer Keller-Ramey,Susan M White,Philippe M Campeau,Karen W Gripp,Kerstin Kutsche
