title: Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
authors.affiliation: Department of Nephrology, Paris 5 University, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Bollée
authors.forename: Fadi
authors.initials: F
authors.lastname: Fakhouri
authors.forename: Alexandre
authors.initials: A
authors.lastname: Karras
authors.forename: Laure-Hélène
authors.initials: LH
authors.lastname: Noël
authors.forename: Rémi
authors.initials: R
authors.lastname: Salomon
authors.forename: Aude
authors.initials: A
authors.lastname: Servais
authors.forename: Philippe
authors.initials: P
authors.lastname: Lesavre
authors.forename: Vincent
authors.initials: V
authors.lastname: Morinière
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
authors.forename: Aurélie
authors.initials: A
authors.lastname: Hummel
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D003598:Cytoskeletal Proteins; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins; D004247:DNA