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

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

Genomics - 1 May 1992

Wang T, Okano Y, Eisensmith R C, Lo W H, Huang S Z, Zeng Y T, Yuan L F, Liu S R, Woo S L

Abstract excerpt

Three novel mutations have been identified in the phenylalanine hydroxylase (PAH) genes of Chinese classical phenylketonuria (PKU) patients. Two of these substitutions (W326X and Y356X) result in the generation of a premature stop codon, while the third (IVS-7nt2) alters an invariant dinucleotide...

Topics

Asian People
Base Sequence
Codon
Humans
Molecular Sequence Data
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Restriction Fragment Length
Recombination, Genetic
White People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 1349576
DOI: 10.1016/0888-7543(92)90229-l

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1349576-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.PMID 1349576Read ↗

Identification of three novel missense PKU mutations among Chinese.Semantic proximity Read ↗

Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.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 ↗

Phenylketonuria mutations in Northern China.Semantic proximity Read ↗

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.Semantic proximity Read ↗

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.Semantic proximity Read ↗

Two novel PAH gene mutations detected in Italian phenylketonuric patients.Semantic proximity Read ↗

[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].Semantic proximity Read ↗

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

[Molecular genetics of phenylketonuria in Orientals--linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene].Semantic proximity Read ↗

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.Semantic proximity Read ↗

[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].Semantic proximity Read ↗

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