Browsing by Subject "complement factor H related protein 5"
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Article
C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in cyprus: Clinical and molecular findings in 21 families
(2013)Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well ...
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Article
Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees
(2011)Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
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Article
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis
(2010)Summary Background Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a ...