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Article

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

Neurogenetics - 1 Apr 2003

Lavigne-Rebillard Mireille, Delprat Benjamin, Surget Marie-Odile, Griffoin Jean-Michel, Weil Dominique, Arbones Mariona, Vincent Robert, Hamel Christian P

Abstract excerpt

Otospiralin is a novel protein of unknown function that is produced by non-sensory cells (fibrocytes) of the inner ear (cochlea and vestibule). We showed that downregulation of otospiralin in guinea pigs leads to deafness and we therefore hypothesized that genetic defects in the otospiralin gene could also cause deafness in humans. In this study, we cloned and localized OTOSP, the human gene for otospiralin....

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Identifiers

PMID: 12687421
DOI: 10.1007/s10048-003-0145-0

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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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