Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))

β-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides...

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Detalles Bibliográficos
Autores principales: Marchi, Nina, Pissard, Serge, Cliquennois, Manuel, Vasseur, Christian, Le Metayer, Nathalie, Mereau, Claude, Jouet, Jean Pierre, Georgel, Anne-France, Genin, Emmanuelle, Rose, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538212/
https://www.ncbi.nlm.nih.gov/pubmed/25469539
http://dx.doi.org/10.1038/ejhg.2014.263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538212/
https://www.ncbi.nlm.nih.gov/pubmed/25469539
http://dx.doi.org/10.1038/ejhg.2014.263

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