Laura escobar and colleagues report new variants, found in the genes ATP6V1B1 and ATP6V0A4, that could be used for a rapid and valuable tool for diagnosis of distal renal tubular acidosis (dRTA) in Mexican population. They identified 3 homozygous variants in ATP6V1B: a frameshift mutation (p.Ile386Hisfs*56), a nucleotide substitution in exon 10 (p.Pro346Arg), and a new splicing mutation in intron 5 and, 2 variants in ATP6V0A4: a homozygous variant (p.Arg743Trp) and a known missense mutations (p.Asp411Tyr).
Escobar, Laura I. et al. Molecular Genetics & Genomic Medicine.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway