Novel heterozygous COL4A3 mutation in a family with late-onset ESRD

Pediatric Nephrology

Volumn 25, Issue 8, 2010, Pages 1539-1542

  Hoefele, Julia ^a   Lange Sperandio, Bärbel ^a   Ruessmann, Despina ^a   Glöckner Pagel, Judith ^a   Alberer, Martin ^a   Benz, Marcus R ^a   Nagel, Mato ^b   Weber, Lutz T ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Center for Nephrology and Metabolic Disorders   (Germany)

Author keywords

Hematuria; Late onset ESRD; Proteinuria; Thin basement membrane nephropathy

Indexed keywords

ADOLESCENT; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; COL4A3 GENE; COL4A4 GENE; COL4A5 GENE; DISEASE COURSE; EXON; GENE; GENE MUTATION; GENETIC VARIABILITY; HEMATURIA; HETEROZYGOSITY; HUMAN; KIDNEY DISEASE; KIDNEY FAILURE; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; THIN BASEMENT MEMBRANE NEPHROPATHY; CHRONIC KIDNEY FAILURE; FOLLOW UP; GENETIC ASSOCIATION; GENETICS; GLOMERULUS BASEMENT MEMBRANE; HETEROZYGOTE; MUTATION; NEPHRITIS; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; EXONS; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; GLOMERULAR BASEMENT MEMBRANE; HEMATURIA; HETEROZYGOTE; HUMANS; KIDNEY DISEASES; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; NEPHRITIS, HEREDITARY; PROTEINURIA;

EID: 77954426406     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1467-4     Document Type: Article

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