Article
Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.
Human mutation - 1 Jan 2000
Kugler W, Willaschek C, Holtz C, Ohlenbusch A, Laspe P, Krügener R, Muirhead H, Schröter W, Lakomek M
Abstract excerpt
Pyruvate kinase (PK) deficiency (PKD) is an autosomal recessive disorder with the typical manifestation of nonspherocytic hemolytic anemia. We analyzed the mutant enzymes of 10 unrelated patients with PKD, whose symptoms ranged from a mild, chronic hemolytic anemia to a severe anemia, by sequence analysis for the presence of alterations in the PKLR gene. In all cases the patients were shown to be compound...
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