Results 131 to 140 of about 3,450 (166)
Disheveled associated activator of morphogenesis 2 variants may produce alport-like changes: a case report. [PDF]
Mol CytogenetYang D, Chen H, Fan Z, Fan J.
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Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney. [PDF]
Kidney Int RepLoderbauer L +14 more
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Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing. [PDF]
Am J Case RepShen Y +5 more
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Alport Syndrome-Associated Pathogenic <i>COL4A4</i> Variant in Sisters With Chronic Kidney Disease: Clinical Findings and Integrative Network Analysis. [PDF]
Int J GenomicsFarooq B +4 more
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From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome. [PDF]
Pediatr NephrolLo Re C, Kim JJ, Fornoni A.
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Detection of mutations in COL4A5 in patients with Alport Syndrome
Human Mutation, 1999Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS.
David Vetrie, F A Flinter
exaly +3 more sources
New COL4A5 mutation in IgA nephropathy
Postgraduate Medical Journal, 2020AbstractPurposeIgA nephropathy (IgAN) is the most common type of primary glomerulonephritis and a leading cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD). Recently, some case reports have shown that COL4A5 mutation is associated with IgAN. Here, we identified a new COL4A5 gene mutation in IgAN in a Chinese family.Materials and
Zhenjian Xu +7 more
openaire +2 more sources