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Glucosephosphate Isomerase (GPI) Deficiency Mutations Associated with Hereditary Nonspherocytic Hemolytic Anemia (HNSHA)

✍ Scribed by Ernest Beutler; Carol West; Howard A. Britton; John Harris; Linda Forman


Book ID
115589900
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
83 KB
Volume
23
Category
Article
ISSN
1079-9796

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Red cell glucose phosphate isomerase (GP
✍ Ada Repiso; Baldomero Oliva; Joan-Lluis Vives-Corrons; Ernest Beutler; JosΓ© Carr πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 341 KB

## Communicated by Andreas Gal Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozyg