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Journal article

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

Abstract:

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 ro...

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Publication status:
Published

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Publisher copy:
10.1002/path.4308

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Publisher:
John Wiley and Sons Ltd
Journal:
The Journal of pathology
Volume:
233
Issue:
1
Pages:
18-26
Publication date:
2014-05-05
DOI:
EISSN:
1096-9896
ISSN:
0022-3417
URN:
uuid:d3a0f71b-7571-4851-ab43-5f1ef5afc190
Source identifiers:
441662
Local pid:
pubs:441662

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