Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria

Nechiporenko M.V., Lalivshits L.A.

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.

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TSitologiya i Genetika
2000, vol. 34, no. 6, 59-63

Cytology and Genetics
, vol. , no. , ,
doi:

Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria

Nechiporenko M.V., Lalivshits L.A.

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