Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: A study of 250 patients with hematuria and suspected of having Alport syndrome

Journal of the American Society of Nephrology

Volumn 7, Issue 5, 1996, Pages 702-709

  Heiskari, Niina ^a   Zhang, Xu ^a,b   Zhou, Jing ^a,e   Leinonen, Anu ^a   Barker, David ^c   Gregory, Martin ^c   Atkin, Curtis L ^c   Netzer, Kai Olaf ^d   Weber, Manfred ^d   Reeders, Stephen ^e   Grönhagen Riska, Carola ^f   Neumann, Hartmut P H ^g   Trembath, Richard ^h   Tryggvason, Karl ^a,b  

^a UNIVERSITY OF OULU   (Finland)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e HARVARD MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF HELSINKI   (Finland)

^g UNIVERSITY OF FREIBURG   (Germany)

^h UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Basement membrane; Collagen; Glomerulus; Hematuria; Hereditary nephritis

Indexed keywords

COLLAGEN TYPE 4; DNA;

ALPORT SYNDROME; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HUMAN; HUMAN TISSUE; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 9844240498     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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