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Article

Hemoglobin variants: biochemical properties and clinical correlates.

Cold Spring Harbor perspectives in medicine - 1 Mar 2013

Thom Christopher S, Dickson Claire F, Gell David A, Weiss Mitchell J

Abstract excerpt

Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant...

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Identifiers

PMID: 23388674
DOI: 10.1101/cshperspect.a011858
PMCID: PMC3579210

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