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A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42).

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Affiliation of Author(s):基础医学院
Journal:Am J Hum Genet.
All the Authors:gongyaoqin,gaoguimin,shaochangshun,Liu,Hu Huili
First Author:gongyaoqin
Document Code:lw-99711
Volume:83
Issue:6
Page Number:752
Number of Words:4
Translation or Not:no
Date of Publication:2008-12-12
Date of Publication:2008-12-12

Pre One:Generation of an iPSC line (SDQLCHi015-A) from peripheral blood mononuclear cells of a patient with mental retardation type 15 carrying c.1007_1011del, p.(Ile336fs) in CUL4B gene.

Next One:Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred.