J P Van Biervliet, A Vlug, H Bartstra, J J Rotteveel, G A de Vaan, G E Staal
{"title":"A new variant of glucosephosphate isomerase deficiency.","authors":"J P Van Biervliet, A Vlug, H Bartstra, J J Rotteveel, G A de Vaan, G E Staal","doi":"10.1007/BF00273629","DOIUrl":null,"url":null,"abstract":"<p><p>A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.</p>","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"30 1","pages":"35-40"},"PeriodicalIF":0.0000,"publicationDate":"1975-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00273629","citationCount":"4","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Humangenetik","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/BF00273629","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 4
Abstract
A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.
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