title: Mutation analysis in Turkish phenylketonuria patients.
abstract: Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.
authors.affiliation: Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Ozgüç
authors.forename: I
authors.initials: I
authors.lastname: Ozalp
authors.forename: T
authors.initials: T
authors.lastname: Coşkun
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: H
authors.initials: H
authors.lastname: Erdem
authors.forename: S
authors.initials: S
authors.lastname: Ayter
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008969:Molecular Sequence Data; D010661:Phenylketonurias / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D014421:Turkey
chemical_list: D004247:DNA