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Article

Premature termination mutations in two patients with deficiency of lactate dehydrogenase H(B) subunit.

Clinical chemistry - 1 Aug 1994

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

Abstract excerpt

Two patients with low lactate dehydrogenase (LD) activity were discovered during healthcare examinations and were found to be homozygous for LD-H (heart) subunit deficiency by electrophoretic isoenzyme analysis of serum and erythrocyte hemolysate. The molecular nature of the genetic mutations was characterized by amplification by the polymerase chain reaction and DNA sequencing. In one case, a single-base...

Topics

Adult
Amino Acid Sequence
Base Sequence
Codon
DNA
Humans
Isoenzymes
L-Lactate Dehydrogenase
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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PMID: 8044998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8044998-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Premature termination mutations in two patients with deficiency of lactate dehydrogenase H(B) subunit.PMID 8044998Read ↗

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