Hemoglobin variants: biochemical properties and clinical correlates

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 v...

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Veröffentlicht in:	Cold Spring Harbor perspectives in medicine 2013-03, Vol.3 (3), p.a011858-a011858
Hauptverfasser:	Thom, Christopher S, Dickson, Claire F, Gell, David A, Weiss, Mitchell J
Format:	Artikel
Sprache:	eng
Schlagworte:	Hemoglobinopathies - genetics Hemoglobins - biosynthesis Hemoglobins - chemistry Hemoglobins - classification Hemoglobins, Abnormal - genetics Humans Methemoglobin - classification Mutation - genetics Oxygen - physiology
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