Year: 1991
Type: article
Abstract: To the Editor:Pyruvate kinase (PK) deficiency is the most common disorder among glycolytic enzyme defect causing hereditary hemolytic anemia.Since the first case was reported 30 years ago, over 300 cases have been reported.In 1988, we isolated the cDNA clones for human L-type PK,' and last year we reported the cDNA cloning of R-type PK and the single amino acid substitution (ThIJg4 to Met) causedbyapointmutation (1151CtoT)in theR-typePKcDNAof the Japanese homozygous patients, PK Tokyo.*We then expressed the L-type PK cDNA carrying the point mutation in Escherichia coli, and successfully reproduced the thermolabile, electrophoreti- cally slow-moving character of the variant PK.'
Source: Blood
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2516906848