GNPTAB C.2404c > T Nonsense Mutation in a Patient with Mucolipidosis III Alpha/beta: a Case Report
BMC medical genetics(2018)
关键词
Mucolipidosis III alpha/beta,Pseudo-hurler polydystrophy,GlcNAc-1-phosphotransferase,GNPTAB,Nonsense variant,P.Q802*
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要