Litcius/Paper detail

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

Hugo Lemoine, Loann Raud, François Foulquier, John A. Sayer, B. Lambert, Eric Olinger, Siriane Lefèvre, Bertrand Knebelmann, Peter C. Harris, Pascal Trouvé, Aurore Després, Gabrielle Duneau, Marie Matignon, Anaïs Poyet, Noémie Jourde‐Chiche, Dominique Guerrot, Sandrine Lemoine, Guillaume Séret, Miguel Barroso‐Gil, Coralie Bingham, Rodney D. Gilbert, Yannick Le Meur, Marie‐Pierre Audrézet, Émilie Cornec-Le Gall

2022The American Journal of Human Genetics71 citationsDOIOpen Access PDF

Topics & Concepts

PKD1Autosomal dominant polycystic kidney diseaseBiologyPolycystic kidney diseaseExome sequencingCystic kidney diseaseFrameshift mutationGeneticsCystic fibrosisHaploinsufficiencyKidneyMutationGenePhenotypeGenetic and Kidney Cyst DiseasesRenal and related cancersRenal Diseases and Glomerulopathies