Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

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Article

Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

Blood - 15 Nov 1992

Lemarchandel V, Joulin V, Valentin C, Rosa R, Galactéros F, Rosa J, Cohen-Solal M

Abstract excerpt

Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration. A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific antibodies and resulting from an 89 Arg-->Cys substitution. The propositus' three sisters...

Topics

Arginine
Base Sequence
Bisphosphoglycerate Mutase
Blotting, Southern
Cysteine
Erythrocytes
Exons
Frameshift Mutation
Heterozygote
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Oligonucleotide Probes

Pedigree

Phenotype

Polymerase Chain Reaction

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 1421379

Genes

BPGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1421379-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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