Article
Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.
Biochemical and biophysical research communications - 28 Mar 1995
Uenaka R, Nakajima H, Noguchi T, Imamura K, Hamaguchi T, Tomita K, Yamada K, Kuwajima M, Kono N, Tanaka T
Abstract excerpt
Novel erythrocyte pyruvate kinase gene defects were found in a patient without a family history of consanguinity. The polymerase chain reaction products of the R-type pyruvate kinase cDNA from the propositus contained two point mutations of Ser80 (TCC)-->Pro (CCC) and Arg490 (CGG)-->Trp (TGG). Allele-specific polymerase chain reaction of the genomic DNA revealed that this patient was a compound heterozygote. The...
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