PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME
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H. ROUGER; E. GIRODON; M. GOOSSENS; F. GALACTÉROS; M. COHEN-SOLAL
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Article
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1996
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John Wiley and Sons
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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