Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Kidney International

Volumn 86, Issue 6, 2014, Pages 1253-1259

  Malone, Andrew F ^a,b   Phelan, Paul J ^a,b   Hall, Gentzon ^a,b   Cetincelik, Umran ^c   Homstad, Alison ^a,b   Alonso, Andrea S ^a,b   Jiang, Ruiji ^a,b   Lindsey, Thomas B ^a   Wu, Guanghong ^a   Sparks, Matthew A ^b   Smith, Stephen R ^b   Webb, Nicholas J A ^d   Kalra, Philip A ^e   Adeyemo, Adebowale A ^f   Shaw, Andrey S ^g   Conlon, Peter J ^h   Jennette, J Charles ⁱ   Howell, David N ^b   Winn, Michelle P ^a,b   Gbadegesin, Rasheed A ^a,b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e HOPE HOSPITAL   (United Kingdom)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g WASHINGTON UNIVERSITY   (United States)

^h BEAUMONT HOSPITAL   (Ireland)

ⁱ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Alport syndrome; Focal segmental glomerulosclerosis; Podocyte; Proteinuria

Indexed keywords

COLLAGEN TYPE 4; COLLAGEN TYPE 4A3; COLLAGEN TYPE 4A4; UNCLASSIFIED DRUG; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ALPORT SYNDROME; ARTICLE; COHORT ANALYSIS; COL4A3 GENE; COL4A4 GENE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ELECTRON MICROSCOPY; EXOME; EYE DISEASE; FAMILIAL DISEASE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLOMERULUS BASEMENT MEMBRANE; HEARING IMPAIRMENT; HEMATURIA; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYALINE DEGENERATION; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MICROSCOPY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; NPHS1 GENE; NPHS2 GENE; PHENOTYPE; PODOCYTE; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEINURIA; RARE DISEASE; ADOLESCENT; ADULT; CHILD; COMPLICATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GENETICS; GENOTYPE; MALE; MIDDLE AGED; PATHOLOGY; ULTRASTRUCTURE; YOUNG ADULT;

ADOLESCENT; ADULT; AUTOANTIGENS; CHILD; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC TESTING; GENOTYPE; GLOMERULAR BASEMENT MEMBRANE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HEARING LOSS; HEMATURIA; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; PODOCYTES; PROTEINURIA; YOUNG ADULT;

EID: 84926212923     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2014.305     Document Type: Article

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