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Article

[Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Feb 2014

Cui Rui, Xu Zefeng, Qin Tiejun, Zhang Yue, Xiao Zhijian

Abstract excerpt

OBJECTIVE: To raise awareness of molecular pathogenesis and treatment of congenital sideroblastic anemia (CSA). METHODS: A complete blood count and iron metabolism were detected from the proband and other members of the family. Mutation analysis was performed on the complete coding regions of ALAS2 gene by common polymerase chain reaction (PCR) using genomic DNA as a template from members the family. ALAS2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24606657
DOI: 10.3760/cma.j.issn.0253-2727.2014.02.018

Genes

ALAS2

Provenance

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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