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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...

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PMID: 8044998

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

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

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Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit.Semantic proximity Read ↗

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

Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining.Semantic proximity Read ↗

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