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

[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2009

Gu Mei-qing, Ye Jun, Qiu Wen-juan, Han Lian-shu, Zhang Ya-feng, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To determine the gene mutation spectrum of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency (PTPSD) in Mainland China. METHODS: The 6-pyruvoyltetrahydrobiopterin synthesis gene lz(PTS)lz was analyzed in 55 PTPSD patients by using PCR-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing. The relationship between the genotype and phenotype was analyzed. RESULTS:...

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 China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolic Diseases

Share to Phenylalanine Hydroxylase

Share to Polymorphism, Restriction Fragment Length

Share to Pregnancy

Share to Pterins

Share to Steroid 21-Hydroxylase

Source

Identifiers

PMID: 19350512
DOI: 10.3760/cma.j.issn.1003-9406.2009.02.014

Genes

PTS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency].PMID 19350512Read ↗

[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].Semantic proximity Read ↗

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.Semantic proximity Read ↗

[Detection of the prevalent mutations of 6-pyruvoyl-tetrahydropterin synthase gene by PCR-RFLP analysis in Chinese patients].Semantic proximity Read ↗

[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.Semantic proximity Read ↗

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.Semantic proximity Read ↗

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.Semantic proximity Read ↗

[Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian 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 ↗

[PTPS gene analysis and prenatal diagnosis in patients with 6-pyruvoyl-tetra hydropterin synthase deficiency].Semantic proximity Read ↗

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.Semantic proximity Read ↗

Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.Semantic proximity Read ↗

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