Hereditary Non-Spherocytic Haemolytic Anaemia : A STUDY OF RED-CELL CARBOHYDRATE METABOLISM IN TWELVE CASES OF PYRUVATE-KINASE DEFICIENCY

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME

PK MONDOR: PRENATAL DIAGNOSIS OF A FRAMESHIFT MUTATION IN THE LR PYRUVATE KINASE GENE ASSOCIATED WITH SEVERE HEREDITARY NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA

✍ H. ROUGER; E. GIRODON; M. GOOSSENS; F. GALACTÉROS; M. COHEN-SOLAL 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 767 KB

A mutant form of pyruvate kinase (PK) from the red blood cells of a consanguineous family with severe non-spherocytic haemolytic anaemia has been characterized by polymerase chain reaction (PCR) amplification and sequencing. The variant enzyme was named PK Mondor, according to the recommendations of