Cargando…
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...
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 |
Ejemplares similares
-
Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients
por: Fang, Riguo, et al.
Publicado: (2021) -
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia
por: Fernández-Murray, J. Pedro, et al.
Publicado: (2016) -
Congenital sideroblastic anemias: From molecular causes to treatment
por: Ducamp, Sarah, et al.
Publicado: (2018) -
Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia
por: Colin, Elia, et al.
Publicado: (2021) -
A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia
por: Ding, Yuxi, et al.
Publicado: (2023)