Article
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.
Human mutation - 1 Feb 2015
Mao Fei, Li Zhaohui, Zhao Baoyue, Lin Pengfei, Liu Pingting, Zhai Meng, Liu Qiji, Shao Changshun, Sun Wenjie, Gong Yaoqin
Abstract excerpt
Using whole-exome sequencing, we surveyed all the potential pathogenic variants in an SPG42 family and found five SNPs and four indels that are shared by two patients and lie in the mapped region. Two variants, SLC33A1 p.Ser113Arg and VEPH1 p.Gln433His, cosegregated with the disease. However, VEPH1 p.Gln433His was predicted to be tolerated, thus leaving SLC33A1 p.Ser113Arg as the most plausible causal variant in...
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