Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
Bollée
Guillaume
G
Department of Nephrology, Paris 5 University, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Fakhouri
Fadi
F
Karras
Alexandre
A
Noël
Laure-Hélène
LH
Salomon
Rémi
R
Servais
Aude
A
Lesavre
Philippe
P
Morinière
Vincent
V
Antignac
Corinne
C
Hummel
Aurélie
A
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*
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins; D004247:DNA