Article
Mutation analysis in Turkish phenylketonuria patients.
Journal of medical genetics - 1 Feb 1993
Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, Ayter S
Abstract excerpt
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.
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