Linked Life Data

6254920

Source:http://linkedlifedata.com/resource/pubmed/id/6254920

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5-6
pubmed:dateCreated
1981-2-26
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0363-0269
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
683-91
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1980
pubmed:articleTitle
Pyrimidine 5'-nucleotidase deficiency: studies of five cases in two Japanese families.
pubmed:publicationType
Journal Article, Case Reports