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Article

Founder mutations in the ATP6V1B1 gene explain most Cypriot cases of distal renal tubular acidosis: first prenatal diagnosis.

Nephron. Clinical practice - 1 Jan 2011

Elia Avraam, Voskarides Konstantinos, Demosthenous Panayiota, Michalopoulou Aikaterini, Malliarou Maria-Adamantia, Georgaki Eleni, Athanasiou Yiannis, Patsias Charalambos, Pierides Alkis, Deltas Constantinos

Abstract excerpt

AIMS: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any association with sensorineural hearing loss (SNHL) onset and particular mu...

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PMID: 20805693
DOI: 10.1159/000320192

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20805693-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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