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Article

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Gene - 25 Jan 2014

Faletra Flavio, Girotto Giorgia, D'Adamo Adamo Pio, Vozzi Diego, Morgan Anna, Gasparini Paolo

Abstract excerpt

Hereditary hearing loss (HHL) is a common disorder accounting for at least 60% of prelingual deafness. It is characterized by a large genetic heterogeneity, and despite the presence of a major gene, still there is a need to search for new causative mutations/genes. Very recently, a mutation within ATP-gated P2X(2) receptor (ligand-gated ion channel, purinergic receptor 2) gene (P2RX2) at DNFA41 locus has been...

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Share to Amino Acid Sequence
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PMID: 24211385
DOI: 10.1016/j.gene.2013.10.052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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