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A New variant of glucosephosphate isomerase deficiency: GPI-kortrijk

✍ Scribed by G.E.J. Staal; J.W.N. Akkerman; E. Eggermont; J.P. Van Biervliet

Book ID: 115821810
Publisher: Elsevier Science
Year: 1977
Tongue: English
Weight: 572 KB
Volume: 78
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(77)90344-8

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In a 5-year-old Italian girl with severe congenital hemolytic anemia, red cell GPI deficiency was proven, and found to be due to a new variant, 'GPI Roma.' The parents are first cousins and have been proven to be heterozygous for this variant. GPI Roma was slightly unstable to heat and exhibited a s