Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomeruloscleros...
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
About this item
Full title
Author / Creator
Malone, Andrew F. , Phelan, Paul J. , Hall, Gentzon , Cetincelik, Umran , Homstad, Alison , Alonso, Andrea S. , Jiang, Ruiji , Lindsey, Thomas B. , Wu, Guanghong , Sparks, Matthew A. , Smith, Stephen R. , Webb, Nicholas J.A. , Kalra, Philip A. , Adeyemo, Adebowale A. , Shaw, Andrey S. , Conlon, Peter J. , Charles Jennette, J. , Howell, David N. , Winn, Michelle P. and Gbadegesin, Rasheed A.
Publisher
United States: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glom...
Alternative Titles
Full title
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis
Authors, Artists and Contributors
Author / Creator
Phelan, Paul J.
Hall, Gentzon
Cetincelik, Umran
Homstad, Alison
Alonso, Andrea S.
Jiang, Ruiji
Lindsey, Thomas B.
Wu, Guanghong
Sparks, Matthew A.
Smith, Stephen R.
Webb, Nicholas J.A.
Kalra, Philip A.
Adeyemo, Adebowale A.
Shaw, Andrey S.
Conlon, Peter J.
Charles Jennette, J.
Howell, David N.
Winn, Michelle P.
Gbadegesin, Rasheed A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4245465
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4245465
Other Identifiers
ISSN
0085-2538
E-ISSN
1523-1755
DOI
10.1038/ki.2014.305
