Article
A missense mutation found in human lactate dehydrogenase-B (H) variant gene.
Biochemical and biophysical research communications - 30 Apr 1990
Sudo K, Maekawa M, Ikawa S, Machida K, Kitamura M, Li S S
Abstract excerpt
A human lactate dehydrogenase-B mutant gene was isolated from a genomic DNA library constructed from a patient with unstable LDH-B (heart) subunit. The nucleotide sequences of seven protein-coding exons were determined and a single nucleotide substitution of G by A at Arg codon CGC in exon 4 was found. This mutation results in an amino-acid replacement of a conserved arginine by histidine at the residue "173,"...
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