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[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2019

An Wen-Bin, An Wen-Bin, Liu Chao, Wan Yang, Guo Ye, Wang Shu-Chun, Zhang Ying-Chi, Zhu Xiao-Fan

Abstract excerpt

OBJECTIVE: To study the clinical features and gene mutation spectrum of children with sideroblastic anemia (SA) and the clinical value of targeted next-generation sequencing in the molecular diagnosis of children with SA. METHODS: Clinical data were collected from 36 children with SA. Targeted next-generation sequencing was used to detect mutations in SA-related pathogenic genes and genes associated with heme...

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PMID: 31642437
PMCID: PMC7389731

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