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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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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 |