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

A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: the role of nonsense-mediated mRNA decay.

Gene - 15 Feb 2013

Wang Kaiyu, Lin Baoshun, Lin Jianmin, Lan Xiaopeng

Abstract excerpt

Myeloperoxidase (MPO) is an important enzyme in innate immunity. Here, we describe the first identified Chinese individual with complete MPO deficiency. The proband was ascertained through routine automated complete blood analysis. Analysis of MPO function and immunogenicity revealed that MPO levels in neutrophils were significantly decreased. Mutational analysis revealed a novel premature termination codon...

Topics

Asian People
Base Sequence
China
Exons
Female
Genotype
Humans
Middle Aged
Mutation
Nonsense Mediated mRNA Decay
Pedigree
Peroxidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23228855
DOI: 10.1016/j.gene.2012.11.042

Genes

MPO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: the role of nonsense-mediated mRNA decay.PMID 23228855Read ↗

A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation.Semantic proximity Read ↗

Impact of missense mutations on biosynthesis of myeloperoxidase.Semantic proximity Read ↗

A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasis.Semantic proximity Read ↗

Genetic characterization of myeloperoxidase deficiency in Italy.Semantic proximity Read ↗

MyeloperoxidaseSemantic proximity Read ↗

Genomic variations in myeloperoxidase gene in the Japanese population.Semantic proximity Read ↗

Genetic studies on myeloperoxidase deficiency in Italy.Semantic proximity Read ↗

Quality control in the endoplasmic reticulum: lessons from hereditary myeloperoxidase deficiency.Semantic proximity Read ↗

Myeloperoxidase.Semantic proximity Read ↗

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.Semantic proximity Read ↗

Myeloperoxidase as an Active Disease Biomarker: Its Recent Biochemical and Pathological PerspectivesSemantic proximity Read ↗

Myeloperoxidase: Growing importance in cancer pathogenesis and potential drug targetSemantic proximity Read ↗

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