Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults

Nephrology Dialysis Transplantation

Volumn 21, Issue 9, 2006, Pages 2660-2663

  Bollée, Guillaume ^a   Fakhouri, Fadi ^a   Karras, Alexandre ^a   Noël, Laure Hélène ^a   Salomon, Rémi ^b   Servais, Aude ^a   Lesavre, Philippe ^a   Morinière, Vincent ^b   Antignac, Corinne ^b   Hummel, Aurélie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSERM   (France)

Author keywords

Chronic tubulointerstitial nephropathy; Hereditary nephropathy; Nephronophthisis; NPHP1 deletion

Indexed keywords

CELL PROTEIN; CREATININE; NEPHROCYSTIN; PROTEIN NPHP1; UNCLASSIFIED DRUG; DNA; NPHP1 PROTEIN, HUMAN; PROTEIN;

ADULT; ARTICLE; ASTHENIA; CASE REPORT; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; ENURESIS; FEMALE; FOLLOW UP; GENE DELETION; HEMATURIA; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; MALE; NEPHRONOPHTHISIS; POLLAKISURIA; POLYDIPSIA; POLYMERASE CHAIN REACTION; POLYURIA; PRIORITY JOURNAL; PROTEINURIA; GENETICS; HOMOZYGOTE; KIDNEY POLYCYSTIC DISEASE; METABOLISM;

ADULT; DNA; FEMALE; FOLLOW-UP STUDIES; GENE DELETION; HOMOZYGOTE; HUMANS; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 33750128225     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl348     Document Type: Article

References (13)

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