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Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred

✍ Scribed by G. Turner; J. Fletcher; J. Elber; Y. Yanagawa; V. Dave; A. Yoshida


Book ID
114714196
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
594 KB
Volume
91
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