- 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...
Expand abstract - Publication status:
- Published
- 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
- Language:
- English
- Keywords:
- Copyright date:
- 2014
Journal article
Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.
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