Article
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.
British journal of haematology - 1 Feb 2006
Noel Núria, Flanagan Jonathan M, Flanagan John, Ramirez Bajo Maria Jose, Kalko Susana G, Mañú María del Mar, Garcia Fuster José Luis, Perez de la Ossa Pablo, Carreras Josep, Beutler Ernest, Vives Corrons Joan-Lluís
Abstract excerpt
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 with progressive neurological impairment. Sequence analysis of the first patient's entire PGK1 gene found a novel missense mutation (140T > A). This mutation caused an...
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