Benign familial hematuria (BFH) is characterized by autosomal dominant inheritance,
thinning of the glomerular basement membrane (GBM) and normal renal function. It is …

Mutations in either the COL4A3 or the COL4A4 genes, encoding the α3 and α4 chains of
type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a …

Background: Alport's syndrome (AS) is a genetically heterogeneous renal hereditary
disease. Mutations in collagen type IV genes have been described to be responsible for X …

Conditions for polymerase chain-reaction amplification of ten exon regions (Exons 3, 7, 11
through 13, and 15 through 19) of the collagen COL4A5 gene and four exon regions (Exons …

Background. Alport syndrome (AS) is a common hereditary cause for end‐stage renal failure
due to a defect in type IV collagen genes. The molecular pathogenesis of benign familial …

Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and
genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial …

Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis
characterized by glomerular basement membrane abnormalities and associated with …

COL4A4mutation in thin basement membrane disease previously described in Alport
syndrome. Background Carriers of autosomal-recessive and X-linked Alport syndrome often …

Molecular genetics of Alport syndrome. Alport syndrome is a progressive hereditary kidney
disease characterized by hematuria, sensorineural hearing loss and ocular lesions with …

Familial benign hematuria (FBH) is a common autosomal dominant disorder characterized
by the presence of persistent or recurrent hematuria. The clinical and pathologic features of …