A family with X-linked Alport syndrome confirmed by skin biopsy [3]

Nephrology Dialysis Transplantation

Volumn 17, Issue 6, 2002, Pages 1145-1147

  Komatsuda, Atsushi ^a   Ohtani, Hiroshi ^a   Wakui, Hideki ^a   Tokuda, Naoki ^a   Nakamoto, Yasushi ^b   Sado, Yoshikazu ^c   Naitoh, Ichiroh ^c   Imai, Hirokazu ^a  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Kichijohji Asahi Hospital   (Japan)

^c Shigei Medical Research Institute and Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4;

ADULT; ALPORT SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BASEMENT MEMBRANE; CASE REPORT; CLINICAL FEATURE; COLLAGEN DEFECT; CONTROLLED STUDY; DIAGNOSTIC TEST; EYE DISEASE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GLOMERULONEPHRITIS; HEARING DISORDER; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MALE; NEPHRITIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SKIN BIOPSY; X CHROMOSOME LINKAGE; BIOPSY; GENETICS; PATHOLOGY; SKIN; X CHROMOSOME;

BIOPSY; CHROMOSOMES, HUMAN, X; HUMANS; NEPHRITIS, HEREDITARY; SKIN;

EID: 0035992082     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/17.6.1145     Document Type: Letter

References (5)

1. Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin
2. Contemporary diagnostic approach in Alport's syndrome
3. Epitope defined monoclonal antibodies against type-IV collagen for diagnosis of Alport's syndrome
4. Alport's syndrome. A report of 58 cases and review of the literature
5. Hereditary nephritis with immunofluorescent mesangial deposits