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Article

Haplotypes and mutations of the PAH locus in Egyptian families with PKU.

European journal of human genetics : EJHG - 1 Jan 2000

Effat L, Kuzmin A, Kasem N, Meguid N A, Kotb S, Eisensmith R C, Temtamy S A, Rushdi S, Woo S, el-Awady M

Abstract excerpt

A high degree of molecular heterogeneneity at the phenylalanine hydroxylase (PAH) locus was established by examining RFLP haplotypes and PAH mutations in the families of 13 Egyptians with phenylketenouria (PKU). Thirteen different haplotypes were unequivocally determined in these kindreds. Haplotypes 1.8, 3.9, 4.3, 7.8, 22.11, 27.6, and 52.8 were found segregating with normal chromosomes, whilst haplotypes 1.8,...

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Source

Identifiers

PMID: 10196714
DOI: 10.1038/sj.ejhg.5200270

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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