Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

doi:10.1002/humu.10195

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Article

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Human mutation - 1 Apr 2003

Tighe Orna, Dunican Donncha, O'Neill Charles, Bertorelle Giorgio, Beattie Diane, Graham Colin, Zschocke Johannes, Cali Francesco, Romano Valentino, Hrabincova Eva, Kozak Libor, Nechyporenko Marina, Livshits Ludmilla, Guldberg Per, Jurkowska Monika, Zekanowski Cezary, Perez Belen, Desviat Lourdes Ruiz, Ugarte Magdalena, Kucinskas Vaidutis, Knappskog Per, Treacy Eileen, Naughten Eileen, Tyfield Linda, Byck Susan, Scriver Charles R, Mayne Philip D, Croke David T

Abstract excerpt

The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching its maximum in the Balto-Slavic region, while R408W-1.8 exhibits an east-to-west cline peaking in Connacht, the most westerly province of Ireland. Spatial...

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PMID: 12655548
DOI: 10.1002/humu.10195

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