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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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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 |