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Article

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

American journal of human genetics - 1 Jan 1995

Eisensmith R C, Goltsov A A, O'Neill C, Tyfield L A, Schwartz E I, Kuzmin A I, Baranovskaya S S, Tsukerman G L, Treacy E, Scriver C R

Abstract excerpt

The relative frequency of the common phenylalanine hydroxylase (PAH) mutation R408W and its associations with polymorphic RFLP, VNTR, and short-tandem-repeat (STR) sites in the PAH gene were examined in many European populations and one representative North American population of defined European descent. This mutation was found to cluster in two regions: in northwest Europe among Irish and Scottish peoples, and...

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Identifiers

PMID: 7825588
PMCID: PMC1801324

Genes

PAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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