Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
复制标题
全外显子组测序在两名患有阿尔斯特罗姆综合征的日本兄弟中发现了一种新的 ALMS1 突变 (p.Q2051X)。
作者：
Katagiri S;Yoshitake K;Akahori M;Hayashi T;Furuno M;Nishino J;Ikeo K;Tsuneoka H;Iwata T.
