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Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome

Bull, Katherine R; Mason, Thomas; Rimmer, Andrew J.; Crockford, Tanya; Silver, Karlee; Bouriez-Jones, Tiphaine; Hough, Tertius; Chaudhry, Shirine; Roberts, Ian S; Goodnow, Christopher; Cornall, Richard J

Description

The study of mutations causing the steroid-resistant nephrotic syndrome in children has greatly advanced our understanding of the kidney filtration barrier. In particular, these genetic variants have illuminated the roles of the podocyte, glomerular basement membrane and endothelial cell in glomerular filtration. However, in a significant number of familial and early onset cases, an underlying mutation cannot be identified, indicating that there are likely to be multiple unknown genes with...[Show more]

CollectionsANU Research Publications
Date published: 2014
Type: Journal article
URI: http://hdl.handle.net/1885/49751
Source: Journal of Pathology
DOI: 10.1002/path.4308

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