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The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA

✍ Scribed by Jonathan M. Flanagan; Melissa Rhodes; Meredith Wilson; Ernest Beutler


Book ID
108673812
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
78 KB
Volume
134
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