title: Menkes gene study in the Chinese population.
abstract: We sought to determine the nature of the molecular defect causing Menkes' syndrome in the Chinese population. The DNA of four patients with typical Menkes manifestation was sequenced. Two pathologic genetic defects were identified; one of them is a nonsense mutation, whereas the other is a frameshift mutation. Both of these mutations are de novo.
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taiwan.
authors.forename: Betty Suk-chun
authors.initials: BS
authors.lastname: Mak
authors.forename: Ching-Shiang
authors.initials: CS
authors.lastname: Chi
authors.forename: Chi-Ren
authors.initials: CR
authors.lastname: Tsai
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D018389:Codon, Nonsense; D000073840:Copper-Transporting ATPases; D004247:DNA; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000453:epidemiology / Q000235:genetics*; D008969:Molecular Sequence Data; D011993:Recombinant Fusion Proteins
chemical_list: D027682:Cation Transport Proteins; D018389:Codon, Nonsense; D011993:Recombinant Fusion Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases