Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications Eloísa Sánchez-Cazorla; Borja Temes-Álvarez; Pilar Oliveros-Martínez; Pedro Fortes-González; María García-Murias; Ana Barcia de la Iglesia; Noa Carrera; Miguel Ángel García-González;

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene Francisco Gonçalves; Pedro Lisboa-Gonçalves; Rita Quental; Susana Fernandes; Sofia Quental; Laurence Michel-Calemard; Claire Goursaud; Sofia Marques; Joana Santos; Isabel Tavares; João Paulo Oliveira;

UMOD-related autosomal dominant tubulointerstitial kidney disease: an unfavourable novel mutation Pedro Viaño Nogueira; Carmen de Lucas Collantes; Valentina Ortiz Cabrera; Andrés Urquía Renke; Cristina Aparicio López;