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

[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020

Shu Jianbo, Cai Fengying, Xu Xiaowei, Zhang Xinjie, Wang Xuetao, Zheng Jie, Zhang Chunhua, Cai Chunqun, Lin Shuxiang, Zhang Yuqin

Abstract excerpt

OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her...

Read the complete abstract on PubMed

Topics

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

Share to Amidohydrolases
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Metabolism, Inborn Errors

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 33179229
DOI: 10.3760/cma.j.cn511374-20191101-00553

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency].PMID 33179229Read ↗

[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].Semantic proximity Read ↗

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report.Semantic proximity Read ↗

[Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency].Semantic proximity Read ↗

Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.Semantic proximity Read ↗

[Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1].Semantic proximity Read ↗

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency].Semantic proximity Read ↗

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].Semantic proximity Read ↗

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].Semantic proximity Read ↗

[Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome].Semantic proximity Read ↗

Novel single nucleotide polymorphisms of the dihydropyrimidinase gene (DPYS) in Japanese individuals.Semantic proximity Read ↗

[Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56].Semantic proximity Read ↗

Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.Semantic proximity Read ↗

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