Genotype-phenotype correlations of low frequency variants in the complement system in renal disease and age-related macular degeneration.

In conclusion, we observed a substantial overlap of variants between aHUS/C3G and AMD, however, there is a distinct clustering of variants within specific domains. This article is protected by copyright. All rights reserved.
PMID: 29888403 [PubMed - as supplied by publisher]

Source: Clinical Genetics - June 11, 2018 Category: Genetics & Stem Cells Authors: Geerlings MJ, Volokhina EB, de Jong EK, van de Kar N, Pauper M, Hoyng CB, van den Heuvel LP, den Hollander AI Tags: Clin Genet Source Type: research