Article
Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.
European journal of human genetics : EJHG - 1 Jan 1996
Eiken H G, Knappskog P M, Boman H, Thune K S, Kaada G, Motzfeldt K, Apold J
Abstract excerpt
We have analysed 236 Norwegian phenylketonuria (PKU) alleles by a combination of mutation scanning methods, restriction enzyme-based assays and DNA sequencing. Thirty-three different mutations constituted 99.6% of all mutant alleles (only 1 allele remains unidentified), 23 of these have been identified also in other European countries. Twenty were predicted missense mutations, 6 splice mutations, 4 nonsense...
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