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

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 splicing signal. These mutations together account for about 10% of all PKU alleles in the Chinese population. The...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Base Sequence
Share to Codon

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

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Share to Recombination, Genetic

Share to White People

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 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

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.