title: [Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease].
abstract: OBJECTIVE
  To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.
  
  
  RESULTS
  Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.
  
  
  CONCLUSIONS
  All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
authors.affiliation: Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Shaanxi, 710004, People's Republic of China.
authors.forename: Xiao-li
authors.initials: XL
authors.lastname: Li
authors.forename: Zhen-hui
authors.initials: ZH
authors.lastname: Peng
authors.forename: Sheng-xiang
authors.initials: SX
authors.lastname: Xiao
authors.forename: Yan
authors.initials: Y
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Pan
authors.forename: Shao-na
authors.initials: SN
authors.lastname: Zhou
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D000252:Calcium-Transporting ATPases / Q000235:genetics*; D016022:Case-Control Studies; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016506:Pemphigus, Benign Familial / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; C403624:ATP2C1 protein, human; D000252:Calcium-Transporting ATPases