A new variant of glucosephosphate isomerase deficiency.
作者信息
Van Biervliet J P, Vlug A, Bartstra H, Rotteveel J J, de Vaan G A, Staal G E
出版信息
Humangenetik. 1975 Oct 20;30(1):35-40. doi: 10.1007/BF00273629.
PMID:1339
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.
摘要
Zotero 插件