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Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing

BACKGROUND: Congenital sideroblastic anemias (CSAs) comprise a group of heterogenous genetic diseases that are caused by the mutation of various genes involved in heme biosynthesis, iron-sulfur cluster biogenesis, or mitochondrial solute transport or metabolism. However, approximately 40 % of patien...

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Detalles Bibliográficos
Autores principales: An, Wenbin, Zhang, Jingliao, Chang, Lixian, Zhang, Yingchi, Wan, Yang, Ren, Yuanyuan, Niu, Deyun, Wu, Jian, Zhu, Xiaofan, Guo, Ye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490691/
https://www.ncbi.nlm.nih.gov/pubmed/25985931
http://dx.doi.org/10.1186/s13045-015-0154-0