A wave of deep intronic mutations in X-linked Alport syndrome

Boisson, M; Arrondel, C; Cagnard, N; Moriniere, V; Arkoub, ZA; Saei, H; Heidet, L; Kachmar, J; Hummel, A; Knebelmann, B; Bonnet-Dupeyron, MN; Isidor, B; Izzedine, H; Legrand, E; Couarch, P; Gribouval, O; Bole-Feysot, C; Parisot, M; Nitschké, P; Antignac, C; Dorval, G

Dorval, G (通讯作者)，Hop Necker Enfants Malad, AP HP, Serv Med Genom Malad Rares, Paris, France.;Dorval, G (通讯作者)，INSERM, UMR 1163, Inst Imagine, Lab Malad Renales Hereditaires, 24 Bd Montparnasse, F-75015 Paris, France.

KIDNEY INTERNATIONAL, 2023; 104 (2): 367

Abstract

X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA s......

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