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Research Article
Mutation analysis in Turkish phenylketonuria patients.
  1. M Ozgüç,
  2. I Ozalp,
  3. T Coşkun,
  4. E Yilmaz,
  5. H Erdem,
  6. S Ayter
  1. Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

    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.

    https://doi.org/10.1136/jmg.30.2.129

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