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

• Published in: Annals of hematology Vol. 99; no. 2; pp. 371 - 373
• Main Authors: Qiu, Yu, Cai, Hao, Cui, Lijia, Liu, Ying-xian, Wang, Yi-ning, Li, Jian, Cao, Xin-xin
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.02.2020; Springer Nature B.V
• Subjects: 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
• ISSN: 0939-5555; 1432-0584
• DOI: 10.1007/s00277-019-03894-6