A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.
Data and Resources
Additional Info
| Field | Value |
|---|---|
| Source | ISSN: 1079-9796 |
| Author | Bardou-Jacquet, Edouard, Island, Marie-Laure, Jouanolle, Anne-Marie, Détivaud, Lénaïck, Fatih, Nadia, Ropert, Martine, Brissot, Eolia, Mosser, Annick, Maisonneuve, Hervé, Brissot, Pierre, Loréal, Olivier |
| Maintainer | CCSD |
| Last Updated | October 31, 2026, 14:39 (UTC) |
| Created | October 31, 2026, 14:39 (UTC) |
| Identifier | hal-00739367 |
| Language | en |
| contributor | Foie, métabolismes et cancer ; Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique) |
| creator | Bardou-Jacquet, Edouard |
| date | 2011-12-15T00:00:00 |
| harvest_object_id | 9867ff6f-6279-4556-9770-3b54b7d104e0 |
| harvest_source_id | 3374d638-d20b-4672-ba96-a23232d55657 |
| harvest_source_title | test moissonnage SELUNE |
| metadata_modified | 2026-07-18T00:00:00 |
| relation | info:eu-repo/semantics/altIdentifier/doi/10.1016/j.bcmd.2011.07.004 |
| set_spec | type:ART |