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Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.

Gene - 20 Aug 2018

Long Zhangbiao, Li Hongmin, Du Yali, Han Bing

Abstract excerpt

Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron...

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PMID: 29787825
DOI: 10.1016/j.gene.2018.05.074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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