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Article

Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection.

Clinical laboratory - 1 Jan 2016

Silawi Mohammad, Haqparast Somayyeh, Tabei Seyed Mohammad Bagher

Abstract excerpt

BACKGROUND: Phenylketonuria (PKU) is the most common disorder of inborn errors of metabolism. Prevalence of PKU is about 1:10000 live births; however, due to high rate of consanguinity in the Middle East and North of Africa the prevalence of PKU is more than in other areas. It is estimated between 1:2600 in Turkey and 1:3672 in Iran. The best way to identify carriers in PKU families is studying causative...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Phenylalanine Hydroxylase

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Source

Identifiers

PMID: 27156318
DOI: 10.7754/clin.lab.2015.150512

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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