Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

Article

Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.

Blood - 1 Mar 1997

Lenzner C, Nürnberg P, Jacobasch G, Gerth C, Thiele B J

Abstract excerpt

We investigated the DNA of 29 unrelated pyruvate kinase (PK) deficiency (PKD) patients from Central Europe with hereditary nonspherocytic hemolytic anemia for mutations in the PK-L/R gene. Among 58 potentially affected alleles, 53 mutations were identified, of which 17 were different from each ot...

Topics

Anemia, Hemolytic
DNA
DNA Mutational Analysis
Humans
Mutation
Pyruvate Kinase

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