Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1750-1172 |
| Author | Steele-Stallard, Heather, Le Quesne Stabej, Polona, Lenassi, Eva, Luxon, Linda, Claustres, Mireille, Roux, Anne-Francoise, Webster, Andrew, Bitner-Glindzicz, Maria |
| Maintainer | CCSD |
| Last Updated | May 10, 2026, 02:39 (UTC) |
| Created | May 10, 2026, 02:39 (UTC) |
| Identifier | inserm-00851699 |
| Language | en |
| Rights | https://about.hal.science/hal-authorisation-v1/ |
| contributor | UCL Institute of Child Health ; University College London [UCL] (UCL) |
| creator | Steele-Stallard, Heather |
| date | 2013-05-10T00:00:00 |
| harvest_object_id | ae3760d0-2713-4606-8de4-0ffb602ec04f |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2026-02-07T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1186/1750-1172-8-122 |
| set_spec | type:ART |