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Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia
Kager, Leo, Minkov, Milen, Zeitlhofer, Petra, Fahrner, Bernhard, Ratzinger, Franz, Boztug, Kaan, Dossenbach-Glaninger, Astrid, Haas, Oskar A.Volume:
63
Language:
english
Journal:
Pediatric Blood & Cancer
DOI:
10.1002/pbc.25878
Date:
May, 2016
File:
PDF, 67 KB
english, 2016