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A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia

✍ Scribed by S. Hayette; L. Morle; M. Bozon; A. Ghanem; M. Risinger; C. Korsgren; M. J. A. Tanner; S. Fattoum; C. M. Cohen; J. Delaunay


Book ID
114714475
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
789 KB
Volume
89
Category
Article
ISSN
0007-1048

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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