Mutation spectrum in Chinese patients affected by congenital sideroblastic anemia and a search for a genotype-phenotype relationship.
作者信息
Liu Gang, Guo Shanshan, Kang Huiyuan, Zhang Fuming, Hu Yulin, Wang Lu, Li Mianyang, Ru Yongxin, Camaschella Clara, Han Bing, Nie Guangjun
出版信息
Haematologica. 2013 Dec;98(12):e158-60. doi: 10.3324/haematol.2013.095513.
Abstract
摘要
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Pre-mRNA splicing during transcription in the mammalian system.哺乳动物体系中转录过程中的前体 mRNA 剪接。
Wiley Interdiscip Rev RNA. 2011 Sep-Oct;2(5):700-17. doi: 10.1002/wrna.86. Epub 2011 May 2.
2
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.错义 SLC25A38 变异在常染色体隐性遗传性铁粒幼细胞性贫血中起重要作用。
Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10.
3
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.铁幼粒细胞性贫血：29 例先证者 ALAS2 基因的分子分析及 10 种错义突变的功能研究。
Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24.
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Hereditary sideroblastic anemia: pathophysiology and gene mutations.遗传性铁粒幼细胞性贫血：病理生理学和基因突变。
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Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.血红素生物合成的首个酶——5-氨基酮戊酸合酶的晶体结构及其与人类X-连锁铁粒幼细胞贫血的关联。
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