| Literature DB >> 7401130 |
S R McCann, A M Smithwick, I J Temperley, K Tipton.
Abstract
A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.Entities:
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Year: 1980 PMID: 7401130 PMCID: PMC1048545 DOI: 10.1136/jmg.17.3.191
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318