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Article

The molecular basis of phenylketonuria in Koreans.

Journal of human genetics - 1 Jan 2004

Lee Dong Hwan, Koo Soo Kyung, Lee Kwang-Soo, Yeon Young-Joo, Oh Hyun-Jeong, Kim Sang-Wun, Lee Sook-Jin, Kim Sung-Soo, Lee Jong-Eun, Jo Inho, Jung Sung-Chul

Abstract excerpt

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). We characterized the PAH mutations of 79 independent Korean patients with PKU or hyperphenylalaninemia. PAH nucleotide sequence analysis revealed 39 different mutations, including ten novel mutations. The novel mutations consisted of nine missense mutations (P69S, G103S, N207D, T278S, P281A,...

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

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Source

Identifiers

PMID: 15503242
DOI: 10.1007/s10038-004-0197-5

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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