Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The
most common form (∼ 80%) is inherited in an X‐linked pattern. X‐linked Alport Syndrome …

The type IV collagen α5 chain (COL4A5) genes of patients with Alport syndrome were tested
for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as …

Background Alport syndrome (AS) is an inherited progressive renal disease caused by
mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the …

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often
is accompanied by sensorineural deafness and ophthalmological signs in the form of …

Background. The clinical and pathological features of Alport syndrome are characterized by
abnormalities in the basement membrane collagen network which are composed of the α3 …

Alport syndrome is inherited as an X-linked (XL), autosomal recessive (AR), or autosomal
dominant (AD) disease, where pathogenic COL4A3–COL4A5 variants affect the basement …

This study summarizes 47 novel mutations identified during routine molecular diagnostics
for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X‐linked Alport …

Alport syndrome (AS) is an inherited disorder and clinically characterized by
glomerulonephritis and end-stage kidney disease (ESRD). The aim of this study was to …

Background. Alport syndrome (AS) is a hereditary nephropathy characterized by progressive
renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene …

Background. Mutations in the COL4A5 gene, encoding the α5 chain of type IV collagen, are
responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized …