[Hereditary anemia: genetic basis, clinical characteristics, diagnosis and treatment. WHO Workgroup].
出版信息
Bull World Health Organ. 1983;61(2):179-98.
Abstract
摘要
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本文引用的文献
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Defective synthesis of HbE is due to reduced levels of beta E mRNA.HbE合成缺陷是由于βE mRNA水平降低所致。
Nature. 1980 Dec 4;288(5790):497-9. doi: 10.1038/288497a0.
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Major rearrangement in the human beta-globin gene cluster.人类β-珠蛋白基因簇中的重大重排。
Nature. 1981 May 7;291(5810):39-44. doi: 10.1038/291039a0.
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Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.β+地中海贫血：异常剪接由内含子中的单个点突变引起。
Cell. 1981 Dec;27(2 Pt 1):289-98. doi: 10.1016/0092-8674(81)90412-8.
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Structure and expression of a cloned beta o thalassaemic globin gene.一个克隆的β地中海贫血球蛋白基因的结构与表达
Nucleic Acids Res. 1981 Sep 11;9(17):4391-401. doi: 10.1093/nar/9.17.4391.
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An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.克隆的β +-地中海贫血球蛋白基因中的内含子核苷酸序列变异体。
Nucleic Acids Res. 1981 Apr 24;9(8):1777-88. doi: 10.1093/nar/9.8.1777.
6
Heterogeneity in the molecular basis of hereditary persistence of fetal haemoglobin.胎儿血红蛋白遗传性持续存在分子基础的异质性。
Nature. 1980 May 29;285(5763):335-7. doi: 10.1038/285335a0.
7
Total management of thalassaemia major.重型地中海贫血的全面管理。
Arch Dis Child. 1977 Jun;52(6):489-500. doi: 10.1136/adc.52.6.489.
8
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells.通过羊水细胞的DNA分析进行镰状细胞贫血的产前诊断。
Lancet. 1978 Oct 28;2(8096):910-2. doi: 10.1016/s0140-6736(78)91629-x.
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