Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia

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Veröffentlicht in:	Annals of hematology 2020-02, Vol.99 (2), p.371-373
Hauptverfasser:	Qiu, Yu, Cai, Hao, Cui, Lijia, Liu, Ying-xian, Wang, Yi-ning, Li, Jian, Cao, Xin-xin
Format:	Artikel
Sprache:	eng
Schlagworte:	5-Aminolevulinate Synthetase - chemistry 5-Aminolevulinate Synthetase - genetics Adult Anemia, Sideroblastic - complications Anemia, Sideroblastic - genetics Bone Marrow - pathology Cell Survival Erythroblasts - pathology Exons - genetics Female Genes, X-Linked - genetics Genetic Diseases, X-Linked - genetics Hematology Heterozygote Humans Iron Overload - diagnostic imaging Iron Overload - etiology Letter to the Editor Magnetic Resonance Imaging Medicine Medicine & Public Health Models, Molecular Mutation, Missense Oncology Point Mutation Protein Conformation Whole Exome Sequencing
Online-Zugang:	Volltext
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