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Phenylketonuria in a low incidence population: molecular characterisation of mutations in Finland.

The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a...

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Autors principals: Guldberg, P, Henriksen, K F, Sipilä, I, Güttler, F, de la Chapelle, A
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051781/
https://ncbi.nlm.nih.gov/pubmed/8825928
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