A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 0002-9297 |
| Author | von Ameln, Simon, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A, Smith, Geoffrey M, Li, Yun, Pogoda, Hans-Martin, Nürnberg, Gudrun, Stiller, Barbara, Volk, Alexander E, Borck, Guntram, Hong, Jason S, Goodyear, Richard J, Abidi, Omar, Nürnberg, Peter, Hofmann, Kay, Richardson, Guy P, Hammerschmidt, Matthias, Moser, Tobias, Wollnik, Bernd, Koehler, Carla M, Teitell, Michael A, Barakat, Abdelhamid, Kubisch, Christian |
| Maintainer | CCSD |
| Last Updated | May 13, 2026, 15:14 (UTC) |
| Created | May 13, 2026, 15:14 (UTC) |
| Identifier | pasteur-00796959 |
| Language | en |
| contributor | Institute of Human Genetics ; Universität Ulm - Ulm University [Ulm, Allemagne] |
| creator | von Ameln, Simon |
| date | 2012-11-02T00:00:00 |
| harvest_object_id | e3bbedd0-bb86-4905-bf90-318c5505b690 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2026-04-05T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2012.09.002 |
| set_spec | type:ART |