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Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration

Age-related macular degeneration (AMD) is the principal cause of blindness in the elderly population. A strong effect on AMD risk has been reported for genetic variants at the CFH locus, encompassing complement factor H (CFH) and the complement-factor-H-related (CFHR) genes, but the underlying mecha...

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Detalles Bibliográficos
Autores principales: Lorés-Motta, Laura, van Beek, Anna E., Willems, Esther, Zandstra, Judith, van Mierlo, Gerard, Einhaus, Alfred, Mary, Jean-Luc, Stucki, Corinne, Bakker, Bjorn, Hoyng, Carel B., Fauser, Sascha, Clark, Simon J., de Jonge, Marien I., Nogoceke, Everson, Koertvely, Elod, Jongerius, Ilse, Kuijpers, Taco W., den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8387287/
https://www.ncbi.nlm.nih.gov/pubmed/34260947
http://dx.doi.org/10.1016/j.ajhg.2021.06.002