Journal of Obesity and Metabolism
Open Access

Filler Guida

Department of Paediatrics, Division of Pediatric Nephrology, Western University, London, ON, Canada

Publications

ATP6V1C2 was Discovered to be a Novel Candidate Gene for Recessive Distal Renal Tubular Acidosis through whole Exome Sequencing

A rare renal tubular disorder called distal renal tubular acidosis is characterized by impaired urinary acidification and hyperchloremic metabolic acidosis. 58-70% of familial cases of distal renal tubular acidosis are caused by mutations in three genes: ATP6V0A4, ATP6V1B1, and SLC4A1. An additional cause has recently been identified as FOXI1 mutat... Read More»

Filler Guida

: J Obes Metab 2023, 6:147

10.4172/jomb.1000147

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