Joubertsyndrome相关论文
目的:探讨来自同一家系的两例表现为Joubert综合征的患儿(其中1例为胎儿)的遗传学病因。方法:采集先证者及父母的外周静脉血样以及......
The Joubert syndrome protein Inpp5e controls ciliogenesis by regulating phosphoinositides at the api
Phosphoinositides,a family of phosphorylated derivatives of phosphatidylinositol (PI),are tightly regulated both tempora......
目的:鉴定一个中国Joubert综合征家系的致病基因及位点.方法:对该Joubert综合征家系的先证者进行目标外显子组捕获测序,通过生物信......
