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Escobar, Laura I. et al. Molecular Genetics & Genomic Medicine.

Escobar, Laura I. et al. Molecular Genetics & Genomic Medicine. 2016 Feb

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).



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HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway