Publications by authors named "M Andreani"
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDFHLA-DPA1*01:12:03 differs from HLA-DPA1*01:12:01 by one nucleotide substitution in codon 204 in exon 4.
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- * The difference between these two variants lies in a single nucleotide change.
- * This substitution occurs specifically at codon 167 in exon 3 of the gene.
Article Synopsis
- HLA-DRB3*02:202 and DRB3*02:112 are two different variants of the HLA-DRB3 gene.
- The only difference between them is a single nucleotide substitution at codon 51 in exon 2.
- This minor genetic variation can potentially lead to differences in immune responses.
HLA-A*02:01:189 differs from HLA-A*02:01:01:01 by one nucleotide substitution in Exon 3, codon 101 TGC > TGT.
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