title: [A simple and rapid method for detection of the 106Gln mutation in Wilson-Konovalov disease].
abstract: A simple and rapid method for detecting the 1069Gln mutation in gene ATP7B based on a PCR specific for this allele has been developed. The 1069Gln mutation is the main cause of Wilson disease (WD) in Russia and accounts for approximately 40% of all mutant alleles of gene ATP7B. Therefore, the method proposed makes the postnatal and prenatal diagnosis of Wilson disease in Russia considerably more rapid and less expensive.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182 Russia.
authors.forename: M I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: A V
authors.initials: AV
authors.lastname: Karabanov
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaia
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D017931:DNA Primers