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A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht)

✍ Scribed by J.P.G.M. Van Biervliet; L. Van Milligen-Boersma; G.E.J. Staal

Book ID: 115820655
Publisher: Elsevier Science
Year: 1975
Tongue: English
Weight: 523 KB
Volume: 65
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(75)90103-5

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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