Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10817876 | Clinical Biochemistry | 2012 | 4 Pages |
Abstract
⺠Novel Hb was fortuitously detected in carrier with erythrocytosis on A1c analysis. ⺠Molecular modelling showed critical functional location of mutation. ⺠Functional analysis showed increased O2 affinity and decreased haptoglobin binding. ⺠Family studies showed only a mild response to tissue anoxia. ⺠Substitution correlated with structure, function and phenotype changes.
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Authors
Stephen O. Brennan, Beverley Pullon, Maurice C. Owen, Thomas Brittain,