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Article

The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.

Mutation research - 10 Oct 2006

Lüleyap H Umit, Alptekin Davut, Pazarbaşi Ayfer, Kasap Mulkiye, Kasap Halil, Demirhindi Hakan, Mungan Neslihan, Ozer Güler, Froster Ursula G

Abstract excerpt

Phenylalanine hydroxylase (PAH) gene mutations were investigated in 23 (46 alleles) unrelated phenylketonuria (PKU) patients in Cukurova region. First, all exons of PAH gene were screened by denaturing high performance liquid chromatography (DHPLC), and then, the suspicious samples were analyzed by direct sequencing technique. Consequently, the following results were obtained: IVS10-11g-->a splicing mutation in...

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Source

Identifiers

PMID: 16765994
DOI: 10.1016/j.mrfmmm.2006.05.006

Genes

PAH

Provenance

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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