Article
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Nature genetics - 1 Mar 2000
Kaplan J M, Kim S H, North K N, Rennke H, Correia L A, Tong H Q, Mathis B J, Rodríguez-Pérez J C, Allen P G, Beggs A H, Pollak M R
Abstract excerpt
Focal and segmental glomerulosclerosis (FSGS) is a common, non-specific renal lesion. Although it is often secondary to other disorders, including HIV infection, obesity, hypertension and diabetes, FSGS also appears as an isolated, idiopathic condition. FSGS is characterized by increased urinary protein excretion and decreasing kidney function. Often, renal insufficiency in affected patients progresses to...
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