1.
患儿GLDC基因测序结果及其家系验证
病例1、2检测到GLDC基因c.3006C > G（p.Cys1002Trp）和c.1256C > G（p.Ser419STer）复合杂合突变，父亲检测到GLDC基因c.1256C > G突变，母亲检测到GLDC基因c.3006C > G突变，突变位点如箭头所示。
Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.