Article

The lysosomal V-ATPase B1 subunit in renal proximal tubule is linked to nephropathic cystinosis

2020-07-25

Abstract excerpt

Variants in ATP6V1B1, the gene encoding the B1 subunit of the vacuolar H+-ATPase lead to distal renal tubular acidosis and hearing loss of variable degree. Apart from metabolic acidosis, a 23-month-old girl with pathogenic ATP6V1B1 variants presented with increased granulocyte cystine levels, and symptoms of renal Fanconi syndrome, indicating an unknown link to proximal tubulopathy and cystinosis, a disorder of th...

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Identifiers and source

Literature Corpus work: 6310e9ab-6b9b-5469-a575-2336166a0840
DOI: 10.1101/2020.07.24.219808

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