[Diagnostic clue and genomic analysis of LDH-M subunit deficiency].

Article

[Diagnostic clue and genomic analysis of LDH-M subunit deficiency].

Rinsho byori. The Japanese journal of clinical pathology - 1 May 1993

Maekawa M, Kanno T

Abstract excerpt

Lactate dehydrogenase (LDH) M(A) subunit deficiency was first discovered by urinary discoloration and a discrepancy of laboratory data. Since then, five other families with this disorder have been reported in the Japanese population. The response of pyruvate concentration after forearm ischemic w...

Topics

Adolescent
Adult
Amino Acid Sequence
Base Sequence
Child
Female
Gene Deletion
Humans
Isoenzymes
L-Lactate Dehydrogenase
Male
Middle Aged
Molecular Sequence Data
Mutation

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