Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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 forty-five of the 50 chromosomes. R241C was the most common mutation (36% of the chromosomes), followed by R408Q (14%...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Metabolism, Inborn Errors
Share to Arginine

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

Share to Cysteine

Share to Founder Effect

Share to Neonatal Screening

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Taiwan

Source

Identifiers

PMID: 14722928
DOI: 10.1002/humu.9215

Genes

PAH

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.PMID 14722928Read ↗

The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.Semantic proximity Read ↗

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, ChinaSemantic proximity Read ↗

[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese].Semantic proximity Read ↗

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.Semantic proximity Read ↗

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].Semantic proximity Read ↗

[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].Semantic proximity Read ↗

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.Semantic proximity Read ↗

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.Semantic proximity Read ↗

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.Semantic proximity Read ↗

[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].Semantic proximity Read ↗

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.Semantic proximity Read ↗

Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.