Mutation analysis in Turkish phenylketonuria patients

J Med Genet. 1993 Feb;30(2):129-30. doi: 10.1136/jmg.30.2.129.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA / genetics*
  • DNA Mutational Analysis
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Introns
  • Molecular Sequence Data
  • Phenylketonurias / genetics*
  • Point Mutation
  • Polymerase Chain Reaction
  • RNA Splicing
  • Turkey

Substances

  • DNA