Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Red cell glucose phosphate isomerase (GP

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia

✍ Ada Repiso; Baldomero Oliva; Joan-Lluis Vives-Corrons; Ernest Beutler; José Carr 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 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