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Article

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

Journal of hematology & oncology - 20 May 2015

An Wenbin, Zhang Jingliao, Chang Lixian, Zhang Yingchi, Wan Yang, Ren Yuanyuan, Niu Deyun, Wu Jian, Zhu Xiaofan, Guo Ye

Abstract excerpt

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 patients with CSA have not been found to have pathogenic gene mutations. In this study, we systematically analyzed the...

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Identifiers

PMID: 25985931
DOI: 10.1186/s13045-015-0154-0
PMCID: PMC4490691

Genes

ALAS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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