Molecular analysis of PKU in Ireland.

doi:10.1111/j.1651-2227.1994.tb13448.x

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Article

Molecular analysis of PKU in Ireland.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Dec 1994

O'Neill C A, Eisensmith R C, Croke D T, Naughten E R, Cahalane S F, Woo S L

Abstract excerpt

Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have charac...

Topics

Gene Frequency
Haplotypes
Humans
Ireland
Minisatellite Repeats
Mutation
Phenylketonurias
Polymorphism, Restriction Fragment Length
Prevalence

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