Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

This work was supported by the Llandough Hospital Haematology Department Research and Development Fund (AM), the European rare disease project (ERARE-115, HMA-IRON) to CB and MSa, the Spanish Health Program (PS09/00341) to MSa and partially by ENERCA (AM,MSa). MSa held a Spanish research contract (R...

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Bibliographic Details
Authors: Kannengiesser, Caroline, Sanchez-Fernandez, Mayka, Sweeney, Marion, Hetet, Gilles, Kerr, Briedgeen, Moran, Erica, Fuster Soler, Jose L., Maloum, Karim, Matthes, Thomas, OUDOT, Caroline, Lascaux, Axelle, Pondarré, Corinne, Sevilla Navarro, Julian, Vidyatilake, Sudharma, Beaumont, Carole, grandchamp, bernard, May, Alison
Format: article
Publication Date:2011
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:20.500.12328/3926
Online Access:http://hdl.handle.net/20.500.12328/3926
https://dx.doi.org/10.3324/haematol.2010.039164
Access Level:Open access
Keyword:Anèmia sideroblàstica congènita
SLC25A38
Mutacions sense sentit
Anemia sideroblástica congénita
Mutaciones sin sentido
Congenital sideroblastic anemia
Missense mutations
61
Description
Summary:This work was supported by the Llandough Hospital Haematology Department Research and Development Fund (AM), the European rare disease project (ERARE-115, HMA-IRON) to CB and MSa, the Spanish Health Program (PS09/00341) to MSa and partially by ENERCA (AM,MSa). MSa held a Spanish research contract (Ramon y Cajal) by the Spanish Ministry of Science and Innovation (RYC-2008-02352).

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