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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 translation and premature termination. The predicted incomplete LDH-A (M) subunit containing only 259 instead of 331...

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

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