Abstract:
:Two new families with red cell pyrimidine 5'-nucleotidase (P5N) deficiencies were found in Japan. The enzyme activities were 4.8% in case 1 and 9.7% in case 2. The propositi showed characteristic hemolytic anemia with market basophilic stippling, increased reduced glutathione content and accumulation of pyrimidine nucleotides in the red cell. High Michaelis constants for cytidine monophosphate, normal thermostability, abnormal optimum pH in both cases, and normal electrophoretic mobility in case 1 and slower mobility in case 2 were shown, suggesting that the cause of P5N deficiency, at least in these cases, is due to the structural gene mutation.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Ishida Y,Fujii H,Miwa Sdoi
10.3109/03630268008997737subject
Has Abstractpub_date
1980-01-01 00:00:00pages
683-91issue
5-6eissn
0363-0269issn
1532-432Xjournal_volume
4pub_type
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