The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy

Pediatric Nephrology

Volumn 23, Issue 12, 2008, Pages 2201-2207

  Tonna, Stephen ^a   Wang, Yan Yan ^a   Wilson, Diane ^b   Rigby, Lin ^a   Tabone, Tania ^c   Cotton, Richard ^c   Savige, Judy ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b BOX HILL HOSPITAL   (Australia)

^c ST VINCENT S HOSPITAL   (Australia)

Author keywords

Glomerular filtration barrier; NPHS2; Podocin; Proteinuria; Slit diaphragm; Thin basement membrane nephropathy

Indexed keywords

PODOCIN;

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; ANALYTIC METHOD; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GLOMERULUS FILTRATION; HEMATURIA; HETEROZYGOTE; HIGH RISK POPULATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY DISEASE; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEINURIA; SINGLE STRANDED CONFORMATIONAL ANALYSIS; THIN BASEMENT MEMBRANE NEPHROPATHY; URINALYSIS;

ACTININ; ADOLESCENT; ADULT; AGED; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GLOMERULAR BASEMENT MEMBRANE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY DISEASES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PROTEINURIA; YOUNG ADULT;

EID: 55649114638     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0934-7     Document Type: Article

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