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Article

Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia.

Gene - 15 Jan 2018

Wang Yongwei, Ru Yongxin, Liu Gang, Dong Shuxu, Li Yuan, Zhu Xiaofan, Zhang Fengkui, Chang Yan-Zhong, Nie Guangjun

Abstract excerpt

Congenital dyserythropoietic anaemias (CDAs) are a group of rare haematological disorders characterized by ineffective erythropoiesis and dyserythropoiesis and reduced numbers of red cells, often with an abnormal morphology. Pathogenic defects in CDAN1, C15ORF41, SEC23B, KIF23, KLF1 and GATA1 genes have been identified in CDAs patients. In this study, we described 13 unrelated Chinese CDAs patients and identified...

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Source

Identifiers

PMID: 29031773
DOI: 10.1016/j.gene.2017.10.027

Genes

CDAN1
GATA1
KIF23
KLF1

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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