https://www.selleckchem.com/pr....oducts/isa-2011b.htm
To present the pathohistological and clinical characteristics of five Croatian families with Alport spectrum disorders caused by splice acceptor pathogenic variant c.193-2AC in COL4A4 at the genomic position chr2227985866. The study enrolled five probands with kidney biopsy analysis and five family members. Mutation screening was performed with Illumina MiSeq platform. The pathogenic variant was confirmed with standard dye-terminator sequencing. The only homozygous patient, aged two, had proteinuria and hematuria with preserved ki
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