Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Date
2010
Author
Loirat, Chantal
Guay-Woodford, Lisa M.
Hall, Michelle
Macher, Marie-Alice
Soulami, Kenza
Stefanidis, Constantinos J.
Weiss, Robert
Gubler, Marie-Claire
Bilge, Ilmay
Antignac, Corinne
Boyer, Olivia
Benoit, Genevieve
Gribouval, Olivier
Nevo, Fabien
Pawtowski, Audrey
Bircan, Zelal
Deschenes, Georges
Metadata
Show full item record
Abstract
Background Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLC31) have been recently described in patients with early onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS). In addition, two cases of PLCE1 mutations associated with focal segmental glomerulosclerosis (FSGS) and later NS onset have been reported.
URI
http://hdl.handle.net/20.500.12627/90335
https://doi.org/10.1136/jmg.2009.076166
Collections