JOURNAL OF MEDICAL GENETICS, vol.47, no.7, pp.445-452, 2010 (Journal Indexed in SCI)
Article / Article
JOURNAL OF MEDICAL GENETICS
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Kocaeli University Affiliated:
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.