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Article

Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network.

Journal of internal medicine - 1 Feb 2017

Cox S N, Pesce F, El-Sayed Moustafa J S, Sallustio F, Serino G, Kkoufou C, Giampetruzzi A, Ancona N, Falchi M, Schena F P

Abstract excerpt

BACKGROUND: IgA nephropathy (IgAN) is a common complex disease with a strong genetic involvement. We aimed to identify novel, rare, highly penetrant risk variants combining family-based linkage analysis with whole-exome sequencing (WES). METHODS: Linkage analysis of 16 kindreds of South Italian ancestry was performed using an 'affected-only' strategy. Eight most informative trios composed of two familial cases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Glomerulonephritis, IGA

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Source

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Identifiers

PMID: 27730700
DOI: 10.1111/joim.12565
PMCID: PMC5297991

Genes

CTNNB1
MAF
MYC
UBC

Provenance

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