title: Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients.
abstract: Mutations in valosin-containing protein (VCP) gene have been recently found in familial and sporadic amyotrophic lateral sclerosis (ALS). To define the frequency of VCP mutations in ALS patients in Chinese population, we sequenced all 17 exons of the VCP gene in a cohort of both familial and sporadic ALS patients of Chinese origin. No nonsynonymous coding variants were identified. This indicates that VCP mutations are not a common cause of familial or sporadic ALS in Chinese population.
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Zhang-Yu
authors.initials: ZY
authors.lastname: Zou
authors.forename: Ming-Sheng
authors.initials: MS
authors.lastname: Liu
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Li
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D005820:Genetic Testing / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D012307:Risk Factors; D000074405:Valosin Containing Protein
chemical_list: D018797:Cell Cycle Proteins; D005819:Genetic Markers; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein