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IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

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 elsew...

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Detalles Bibliográficos
Autores principales: Kountouris, Petros, Lederer, Carsten W., Fanis, Pavlos, Feleki, Xenia, Old, John, Kleanthous, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109966/
https://www.ncbi.nlm.nih.gov/pubmed/25058394
http://dx.doi.org/10.1371/journal.pone.0103020