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

A novel stoploss mutation CYB5R3 c.906A>G(p.302Trpext42) involved in the pathogenesis of hereditary methemoglobinemia.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2025

He Kai-Ying, Yu Hong-Ping, Zou Jing, Chen Xiang, Chen Li, Ruan Dan-Dan, Chen Ting, Chen Qian, Zhang Li, Gao Mei-Zhu, Lin Xin-Fu, Li Hong, Fang Zhu-Ting, Wu Jing, Luo Jie-Wei, Liao Li-Sheng

Abstract excerpt

Recessive congenital methemoglobinemia (RCM) is a hereditary autosomal disorder with an extremely low incidence rate. Here, we report a case of methemoglobinemia type I in a patient with congenital persistent cyanosis. The condition was attributed to a novel compound heterozygous mutation in CYB5R3, characterized by elevated methemoglobin levels (13.4 % of total hemoglobin) and undetectable NADH cytochrome b5...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Terminator
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39154701
DOI: 10.1016/j.cca.2024.119930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.PMID 39154701Read ↗

Three Novel Mutations in CYB5R3 Gene Causing NADH-cytochrome b5 Reductase Enzyme Deficiency Leads to Recessive Congenital MethaemoglobinemiaSemantic proximity Read ↗

Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.Semantic proximity Read ↗

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.Semantic proximity Read ↗

CYB5R3 HOMOZYGOUS MUTATION AS A RARE CAUSE OF CYANOSIS IN THE NEWBORNSemantic proximity Read ↗

A novel L218P mutation in NADH-cytochrome b5 reductase associated with type I recessive congenital methemoglobinemia.Semantic proximity Read ↗

Molecular basis of two novel mutations found in type I methemoglobinemia.Semantic proximity Read ↗

Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.Semantic proximity Read ↗

Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.Semantic proximity Read ↗

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats.Semantic proximity Read ↗

Cellular and Molecular Mechanisms of Recessive Hereditary Methaemoglobinaemia Type IISemantic proximity Read ↗

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.Semantic proximity Read ↗

[Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia].Semantic proximity Read ↗

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