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pro vyhledávání: '"José Luis, Garcia Fuster"'
Autor:
Núria, Noel, Jonathan M, Flanagan, John, Flanagan, Maria Jose, Ramirez Bajo, Susana G, Kalko, María del Mar, Mañú, José Luis, Garcia Fuster, Pablo, Perez de la Ossa, Josep, Carreras, Ernest, Beutler, Joan-Lluís, Vives Corrons
Publikováno v:
British Journal of Haematology. :051220022257015
We report two previously undescribed mutations of the phosphoglycerate kinase gene (PGK1) leading to enzyme deficiency. In both cases, the patients were of Spanish origin and they exhibited a severe life-long chronic haemolytic anaemia associated wit