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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

24 Jul 2014

Abstract excerpt

Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in addition to numerous clinically important trans-acting disease modifiers encoded elsewhere and a multitude of polymorphisms with relevance for advanced diagnostic approaches. Moreover, new...

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PMID: 25058394
DOI: 10.1371/journal.pone.0103020

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