Open AccessMonoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Author(s) -
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 Matig,
Anaïs Poyet,
Noémie JourdeChiche,
Dominique Guerrot,
Sandrine Lemoine,
Guillaume Séret,
Miguel BarrosoGil,
Coralie Bingham,
Rodney D. Gilbert,
Yannick Le Meur,
MariePierre Audrézet,
Émilie Cornec-Le Gall
Publication year - 2022
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2022.06.013
Subject(s) - pkd1 , autosomal dominant polycystic kidney disease , biology , polycystic kidney disease , exome sequencing , cystic kidney disease , frameshift mutation , genetics , cystic fibrosis , haploinsufficiency , kidney , mutation , gene , phenotype
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