The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

This work was supported by ARETHA grant PID2021122436OB-I00 funded by MCIN/AEI/https://doi.org/10.13039/501100011033 to M.S, by grant PLEC2021-007727/AEI /https://doi.org/10.13039/501100011033/Union Europea NextGenerationEU/PRTR from MCIN to M.S. and by Deutsche Josep Carreras Leukämie-Stiftung gran...

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Detalles Bibliográficos
Autores: Jové Solavera, Daniel, Rámila, Marta, Ferrer, Xènia, Olivella, Mireia, Venturi, Veronica, Morado, Marta, Hernández-Rodríguez, Ines, Khan, Aneal, Pérez-Montero, Santiago, Tornador, Cristian, Germing, Ulrich, Gattermann, Norbert, Sanchez-Fernandez, Mayka
Tipo de recurso: artículo
Fecha de publicación:2025
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:20.500.12328/5055
Acceso en línea:http://hdl.handle.net/20.500.12328/5055
https://dx.doi.org/10.1038/s41598-025-95590-x
Access Level:acceso abierto
Palabra clave:ALAS2
Anèmia sideroblàstica lligada al cromosoma X
Anèmia sideroblàstica congènita
Anèmia hereditària
Sideroblasts en anell
Mutació stop-loss
Anemia sideroblástica ligada al cromosoma X
Anemia sideroblástica congénita
Anemia hereditaria
Sideroblastos en anillo
Mutación stop-loss
X-linked sideroblastic anemia
Congenital sideroblastic anemia
Hereditary anemia
Ring sideroblasts
Stop-loss mutation
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Descripción
Sumario:This work was supported by ARETHA grant PID2021122436OB-I00 funded by MCIN/AEI/https://doi.org/10.13039/501100011033 to M.S, by grant PLEC2021-007727/AEI /https://doi.org/10.13039/501100011033/Union Europea NextGenerationEU/PRTR from MCIN to M.S. and by Deutsche Josep Carreras Leukämie-Stiftung grant DJCLS R 14/04 to N.G. and M.S. D.J-S. hold a UIC predoctoral fellowship. X.F.-C. was partially supported by funds provided by the grant PID2021122436OB-I00 funded by MCIN/AEI/https://doi.org/10.13039/501100011033. V.V. was supported by funds provided by APU and ADISCON patient associations, UIC postdoctoral scholarship and by funds provided by RETOS COLABORACION grant RTC2019-007074-1 from MCIN/AEI/https://doi.org/10.13039/501100011033 from Spanish Ministry of Science and Innovation (MICINN).

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