Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France.

doi:10.1046/j.1365-2141.1996.405941.x

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Article

Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France.

British journal of haematology - 1 Mar 1996

Rouger H, Valentin C, Craescu C T, Galactéros F, Cohen-Solal M

Abstract excerpt

A survey of PK-deficient patients by molecular biology techniques has been performed in France in 26 unrelated families, in which at least one mutation has been characterized. The patients, of European or North African origin, exhibited approximatively 10% of PK activity. Among the PK-R mutants d...

Topics

Anemia, Hemolytic
Base Sequence
France
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Pyruvate Kinase

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