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Article

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.

Journal of human genetics - 1 Jan 2008

Bercovich Dani, Elimelech Arava, Zlotogora Joel, Korem Sigal, Yardeni Tal, Gal Nurit, Goldstein Nurit, Vilensky Bela, Segev Roni, Avraham Smadar, Loewenthal Ron, Schwartz Gerard, Anikster Yair

Abstract excerpt

The aims of our research were to define the genotype-phenotype correlations of mutations in the phenylalanine hydroxylase (PAH) gene that cause phenylketonuria (PKU) among the Israeli population. The mutation spectrum of the PAH gene in PKU patients in Israel is described, along with a discussion on genotype-phenotype correlations. By using polymerase chain reaction/denaturing high-performance liquid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18299955
DOI: 10.1007/s10038-008-0264-4

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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