The pathogenesis of IgA nephropathy (IgAN) is still not clear but familial clustering demonstrates a strong genetic involvement. Aim of our study was to find rare, highly penetrant risk variants, combining family-based linkage analysis with whole exome sequencing (WES).
RARE GENETIC VARIANTS IMPLICATED IN INNATE AND ADAPTIVE IMMUNITY CO-SEGREGATE WITH FAMILIAL IGA NEPHROPATHY
COX, SHARON NATASHA;PESCE, FRANCESCO;SALLUSTIO, FABIO;SERINO, GRAZIA;GIAMPETRUZZI, ANNALISA;SCHENA, Francesco Paolo
2016-01-01
Abstract
The pathogenesis of IgA nephropathy (IgAN) is still not clear but familial clustering demonstrates a strong genetic involvement. Aim of our study was to find rare, highly penetrant risk variants, combining family-based linkage analysis with whole exome sequencing (WES).File in questo prodotto:
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