Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands

Autor: Gueguen, Lorraine, Delaval, Ronan, Blanluet, Maud, Sartelet, Hervé, Leou, Sylvie, Dubois d’Enghien, Catherine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Testevuide, Pascale, Faguer, Stanislas
Zdroj: In Kidney International Reports August 2021 6(8):2207-2211
Databáze: ScienceDirect