Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Tarih
2010
Yazar
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
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Özet
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.
Bağlantı
http://hdl.handle.net/20.500.12627/90335
https://doi.org/10.1136/jmg.2009.076166
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