GNPTAB基因新变异致黏脂贮积症Ⅲα/β型的临床表现和遗传学分析
王丽,石聪聪,严学勤,唐家彦,李思涛,郝虎,肖昕
Study on the clinical characteristics and genetic mechanisms of mucolipidosis Ⅲα/β caused by a novel mutation in the GNPTAB gene
Li WANG,Congcong SHI,Xueqin YAN,Jiayan TANG,Sitao LI,Hu HAO,Xin. XIAO
实用医学杂志 . 2024, (24): 3575 -3581 .  DOI: 10.3969/j.issn.1006-5725.2024.24.022