PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

doi:10.1007/BF02265283

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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 mu...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
DNA Restriction Enzymes
Exons
Female
Gene Frequency
Haplotypes
Humans
Infant
Male
Molecular Sequence Data
Norway
Pedigree
Phenotype
Phenylalanine

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