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  • Title: Three families with hereditary hemolytic anemia and pyrimidine 5'-nucleotidase deficiency: electrophoretic and kinetic studies.
    Author: Hirono A, Fujii H, Miyajima H, Kawakatsu T, Hiyoshi Y, Miwa S.
    Journal: Clin Chim Acta; 1983 May 30; 130(2):189-97. PubMed ID: 6307548.
    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.
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