Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family

发布时间:2022-12-22|点击次数:

所属单位:基础医学院

论文名称:Identification and Functional Analysis of a SLC33A1: c.339T > G (p.Ser113Arg) Variant in the Original SPG42 Family

发表刊物:HUMAN MUTATION

关键字:hereditary spastic paraplegias (HSP);exome sequencing;SLC33A1;mutation

第一作者:毛飞

论文编号:1417758539073458177

期号:0

页面范围:240-249

字数:4

是否译文:否

发表时间:2015-08-13