The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Thin-basement-membrane nephropathy (TBMN) is characterized by persistent dysmorphic hematuria, and the presence of proteinuria is a risk factor for renal impairment. TBMN is often due to mutations in the
COL4A3
and
COL4A4
genes, and this study determined whether additional mutations in genes encoding other structures in the glomerular f...
Alternative Titles
Full title
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_69731246
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69731246
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-008-0934-7
