Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.

Zygulska M, Eigel A, Pietrzyk J J, Horst J

Department of Medical Genetics, Institute of Pediatrics, Medical Academy, Krakow, Poland.

Hum Mutat. 1993;2(3):238-9. doi: 10.1002/humu.1380020314.

Abstract

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