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Nechiporenko M.V., Lalivshits L.A.
Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria
TSitologiia i genetika 2000, v 34, Issue 6, 59-63
The data on analysis of phenylalanine hydroxilase (PAH) gene mutations in 39 phenylketonuria (PKU) families from Ukraine are presented. Obtained resul c86 ts indicate that the most common mutation observed in the Ukrainian population is R408W mutation (66.6%). Besides two minor mutations R158Q (2.6%) and Y414C (1.25%) were revealed.
Nechiporenko M.V., Lalivshits L.A. Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria // Tsitol Genet. – 2000. – 34(6). – P. 59-63.
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