Three families with hereditary hemolytic anemia and pyrimidine 5'-nucleotidase deficiency: electrophoretic and kinetic studies

Clinica Chimica Acta; International Journal of Clinical Chemistry
A HironoS Miwa

Abstract

Three new variants of pyrimidine 5'-nucleotidase (P5N) found in Japan were studied. They are characterized by slow electrophoretic mobility and a high Michaelis constant for cytidine 5'-monophosphate as has been described in previously reported cases, but are unique with respect to the thermostability test and in pH optima. P5N Kumamoto was thermostable and showed a markedly basic shift in the pH optimum. P5N Nagano was thermolabile and had a normal pH optimum. P5N Kurume was thermostable and showed a basic shift in the pH optimum. These data suggest that these variants have structural gene mutations and that they are clearly distinguished from previously reported cases.

References

Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H A BucA Najman
Jul 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·H FujiiK Nomura
Aug 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·R RosaJ Rosa
Oct 1, 1974·The Journal of Clinical Investigation·W N ValentineW S Adams
Dec 8, 1980·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y IshidaA Kibe
Nov 1, 1982·Analytical Biochemistry·J D TorranceW Mills
Nov 1, 1954·Journal of Clinical Pathology·P R KIND, E J KING

Citations

Jul 9, 2004·British Journal of Haematology·Hitoshi KannoHisaichi Fujii
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·G Jacobasch
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·J L Vives i Corrons
Sep 1, 1987·American Journal of Hematology·T KondoS Miwa

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