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Article

Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant.

Human genetics - 1 May 1992

Sudo K, Maekawa M, Tomonaga A, Tsukada T, Nakayama T, Kitamura M, Li S S, Kanno T, Toriumi J

Abstract excerpt

We have previously detected a single base substitution of G by A at the Arg codon CGC in exon 4 of the mutant lactate dehydrogenase (LDH) gene, an unstable LDH-B variant (case 1). Here, we use the polymerase chain reaction (PCR) to amplify genomic DNA of two cases (the original case 1 and a new patient, case 2). We were able to confirm that case 1 is homozygous for the mutation, causing a replacement of the...

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Source

Identifiers

PMID: 1587525
DOI: 10.1007/BF00217116

Genes

AGT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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