title: [A mutation in TGF beta1 gene encoding the latency-associated peptide in a Chinese patient with Camurati-Engelmann disease].
abstract: OBJECTIVE
  To identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).
  
  
  METHODS
  Denaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.
  
  
  RESULTS
  Mutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.
  
  
  CONCLUSIONS
  The identification of the mutation could provide essential data for subsequent therapy and genetic counseling.
authors.affiliation: Human Reproductive and Stem Cell Engineering Institute, Central South University, Changsha, Hunan, 410008 PR China.
authors.forename: Yue-hong
authors.initials: YH
authors.lastname: Liang
authors.forename: Wen
authors.initials: W
authors.lastname: Li
authors.forename: Lu-yun
authors.initials: LY
authors.lastname: Li
authors.forename: Yi-yan
authors.initials: YY
authors.lastname: Ye
authors.forename: Guang-xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D001483:Base Sequence; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D002681:China; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
chemical_list: D053773:Transforming Growth Factor beta1