Article
PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.
Human genetics - 1 Mar 1992
Eiken H G, Stangeland K, Skjelkvåle L, Knappskog P M, Boman H, Apold J
Abstract excerpt
Details are given concerning the phenylketonuria (PKU) mutations R408Q and F299C. Both mutations were identified among 47 PKU patients, derived from the Norwegian PKU registry. A novel PKU mutation (R408Q) was identified, by single-strand conformation polymorphism analysis, on six out of eight mutant haplotype 12 chromosomes and on none of the other PKU chromosomes. The F299C mutation occurred exclusively on...
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