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

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].

Yi chuan xue bao = Acta genetica Sinica - 1 Jan 1997

Sun G, Jiang L, Zhang X, Tong B, Dong G, Sun K

Abstract excerpt

Exon 7 of the phenylalanine hydroxylase (PAH) gene was analyzed in 45 children affected with classic phenylketonuria (PKU) from northern China by using PCR-single strand conformation polymorphism (PCR-SSCP) technique and DNA direct sequencing. Six missense mutations (i.e. R243Q, R241H, G247V, L249H, P254I and G257V) and one silent mutation (V245V) were identified. The latter three missense mutations were...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to China
Share to Exons

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

Share to PAH gene

Share to Mutation

Share to Phenylketonurias

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9575658

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].PMID 9575658Read ↗

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

[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].Semantic proximity Read ↗

[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].Semantic proximity Read ↗

[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].Semantic proximity Read ↗

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

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

[Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].Semantic proximity Read ↗

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

[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].Semantic proximity Read ↗

[Identification of mutations in the phenylalanine hydroxylase gene and exon 5 novel mutation Y166X(C-->G) in Yunnan].Semantic proximity Read ↗

[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].Semantic proximity Read ↗

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

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