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Article

Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency.

Biochemical and biophysical research communications - 30 Apr 1990

Maekawa M, Sudo K, Kanno T, Li S S

Abstract excerpt

Human lactate dehydrogenase-A mutant gene was isolated from the genomic DNA library of a patient deficient in LDH-A (Muscle) subunit. The nucleotide sequences of seven protein-coding exons were determined and a deletion of 20 base-pairs in exon 6 was found. This mutation results in a frame-shift...

Topics

Amino Acid Sequence
Base Sequence
DNA
Exons
Female
Humans
L-Lactate Dehydrogenase
Molecular Sequence Data
Mutation
Restriction Mapping

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2334430
DOI: 10.1016/0006-291x(90)92374-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2334430-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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