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Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene

✍ Scribed by Elisa Fermo; Paola Bianchi; Laurent R. Chiarelli; Frederic Cotton; Cristina Vercellati; Karin Writzl; Kerry Baker; Ian Hann; Robin Rodwell; Giovanna Valentini; Alberto Zanella


Book ID
108673208
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
136 KB
Volume
129
Category
Article
ISSN
0007-1048

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πŸ“œ SIMILAR VOLUMES


PK MONDOR: PRENATAL DIAGNOSIS OF A FRAME
✍ H. ROUGER; E. GIRODON; M. GOOSSENS; F. GALACTΓ‰ROS; M. COHEN-SOLAL πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 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