New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis

Colombat, M; Aldigier, JC; Rothschild, PR; Javaugue, V; Desport, E; Frouget, T; Goujon, JM; Rioux-Leclercq, N; Quellard, N; Rerolle, JP; Paraf, F; Beugnet, C; Tiple, A; Durrbach, A; Samuel, D; Brezin, A; Bridoux, F; Valleix, S

Valleix, S (corresponding author), Univ Paris, Lab Genet Mol, Hop Necker Enfants Malad, Federat Genet,AP HP, 147 Rue Sevres, F-75015 Paris, France.

KIDNEY INTERNATIONAL, 2020; 98 (1): 195

Abstract

Apolipoprotein A1 amyloidosis (ApoAI) results from specific mutations in the APOA1 gene causing abnormal accumulation of amyloid fibrils in diverse ti......

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