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Article

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

Human mutation - 1 Feb 2004

Chien Yin-Hsiu, Chiang Shu-Chuan, Huang Aichu, Chou Shi-Ping, Tseng Szu-San, Huang Yuan-Te, Hwu Wuh-Liang

Abstract excerpt

The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in...

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Source

Identifiers

PMID: 14722928
DOI: 10.1002/humu.9215

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14722928-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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