Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.

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Article

Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.

Blood - 1 Apr 1990

Kobayashi Y, Fukumaki Y, Yubisui T, Inoue J, Sakaki Y

Abstract excerpt

Hereditary methemoglobinemia is an autosomal recessive disorder characterized by NADH-cytochrome b5 reductase (b5R) deficiency. In an attempt to clarify the molecular mechanisms involved in the enzyme deficiency, we isolated the b5R gene from a patient homozygous for hereditary methemoglobinemia, generalized type, and compared its nucleotide sequence with that of the normal NADH-cytochrome b5R gene. Only one...

Topics

Adult
Alleles
Amino Acid Sequence
Base Sequence
Blood Platelets
Cytochrome Reductases
Cytochrome-B(5) Reductase
Erythrocytes
Female
Genomic Library
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Lymphocytes

Male

Methemoglobin

Methemoglobinemia

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 2107882

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2107882-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Serine-proline replacement at residue 127 of NADH-cytochrome b5 reductase causes hereditary methemoglobinemia, generalized type.PMID 2107882Read ↗

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