Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts

Refractory anaemia with ring sideroblasts (RARS) is distinguished by hyperplastic inefficient erythropoiesis, aberrant mitochondrial ferritin accumulation and anaemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of RARS cases. To explore the link between SF3B1 mutati...

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Publicado en:Br J Haematol
Autores principales: Conte, Simona, Katayama, Shintaro, Vesterlund, Liselotte, Karimi, Mohsen, Dimitriou, Marios, Jansson, Monika, Mortera‐Blanco, Teresa, Unneberg, Per, Papaemmanuil, Elli, Sander, Birgitta, Skoog, Tiina, Campbell, Peter, Walfridsson, Julian, Kere, Juha, Hellström‐Lindberg, Eva
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2015
Materias:
Haematological Malignancy
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832260/
https://ncbi.nlm.nih.gov/pubmed/26255870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjh.13610
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