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 PCCA and PCCB gene mutations in patients with propionic acidemia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2015

Chen Zhanling, Wen Pengqiang, Wang Guobing, Hu Yuhui, Liu Xiaohong, Chen Li, Chen Shuli, Wan Lisheng, Cui Dong, Shang Yue, Li Chengrong

Abstract excerpt

OBJECTIVE: To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA). METHODS: Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing. RESULTS: DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Methylmalonyl-CoA Decarboxylase

Share to Mutation

Source

Identifiers

PMID: 25636094
DOI: 10.3760/cma.j.issn.1003-9406.2015.01.006

Genes

PCCA
PCCB

Variants

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

[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].PMID 25636094Read ↗

[Gene mutation analysis in patients with propionic acidemia].Semantic proximity Read ↗

[Identification of two novel variants of the PCCB gene in a pedigree affected with propionic acidemia].Semantic proximity Read ↗

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.Semantic proximity Read ↗

Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.Semantic proximity Read ↗

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.Semantic proximity Read ↗

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.Semantic proximity Read ↗

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.Semantic proximity Read ↗

Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from ChinaSemantic proximity Read ↗

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.Semantic proximity Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.Semantic proximity Read ↗

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

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