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[Molecular analysis of the structure of the mutant NADH-cytochrome b5 reductase gene causing methemoglobinemia].

Fukuoka igaku zasshi = Hukuoka acta medica - 1 Jan 1990

Kobayashi Y

Abstract excerpt

Hereditary methemoglobinemia is a genetic disorder, transmitted as an autosomal recessive trait, characterized by NADH-cytochrome b5 reductase (b5R) deficiency. It is classified three types, erythrocyte, generalized, and blood cell types, in terms of tissues in which the enzyme is deficient. In attempt to analyse molecular mechanisms involved in the enzyme deficiency, we isolated b5R genes from the patient of...

Topics

Amino Acid Sequence
Base Sequence
Cytochrome Reductases
Cytochrome-B(5) Reductase
Genes
Humans
Methemoglobinemia
Molecular Sequence Data
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2323714

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2323714-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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