Genetic, clinical, and pathologic backgrounds of patients with autosomal dominant alport syndrome

Clinical Journal of the American Society of Nephrology

Volumn 11, Issue 8, 2016, Pages 1441-1449

  Kamiyoshi, Naohiro ^a   Nozu, Kandai ^a   Fu, Xue Jun ^a   Morisada, Naoya ^a   Nozu, Yoshimi ^a   Ye, Ming Juan ^a   Imafuku, Aya ^b   Miura, Kenichiro ^c   Yamamura, Tomohiko ^a   Minamikawa, Shogo ^a   Shono, Akemi ^a   Ninchoji, Takeshi ^a   Morioka, Ichiro ^a   Nakanishi, Koichi ^d   Yoshikawa, Norishige ^d   Kaito, Hiroshi ^a   Iijima, Kazumoto ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TORANOMON HOSPITAL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Alport syndrome; Autosomal dominant; COL4A3; COL4A4; Glomerular Basement Membrane; Hearing Loss; Humans; Japan; kidney; Phenotype; proteinuria; Renal Insufficiency, Chronic

Indexed keywords

COLLAGEN TYPE 4; TUMSTATIN; AUTOANTIGEN; COL4A4 PROTEIN, HUMAN; TYPE IV COLLAGEN ALPHA3 CHAIN;

ADOLESCENT; ADULT; AGED; ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; ELECTRON MICROSCOPY; END STAGE RENAL DISEASE; ESTIMATED GLOMERULAR FILTRATION RATE; EYE INJURY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENETIC ANALYSIS; GENETIC ANALYZER; HAPLOTYPE; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; MALE; MEDIAN SURVIVAL TIME; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; PROTEINURIA; RETROSPECTIVE STUDY; SANGER SEQUENCING; BIOPSY; CHRONIC KIDNEY FAILURE; COMPLICATION; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENETICS; KIDNEY; MIDDLE AGED; NEPHRITIS; ONSET AGE; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AUTOANTIGENS; BIOPSY; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; HAPLOTYPES; HUMANS; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; PROTEINURIA; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 85019426444     PISSN: 15559041     EISSN: 1555905X     Source Type: Journal    
DOI: 10.2215/CJN.01000116     Document Type: Article

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