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J Med Genet. 1993 Feb;30(2):129-30.

Mutation analysis in Turkish phenylketonuria patients.

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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.

PMID:
8445616
PMCID:
PMC1016269
[Indexed for MEDLINE]
Free PMC Article
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