The thalassemias: molecular mechanisms of human genetic disease.
作者信息
Spritz R A, Forget B G
出版信息
Am J Hum Genet. 1983 May;35(3):333-61.
Abstract
摘要
相似文献
1
The thalassemias: molecular mechanisms of human genetic disease.地中海贫血：人类遗传疾病的分子机制
Am J Hum Genet. 1983 May;35(3):333-61.
2
The molecular genetics of thalassemia.地中海贫血的分子遗传学
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Of mice and men.人鼠之间
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[Molecular bases of thalassemia].[地中海贫血的分子基础]
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5
The mutational basis of the thalassemia syndromes.地中海贫血综合征的突变基础。
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6
Genetic mechanisms contributing to the expression of the human hemoglogin loci.导致人类血红蛋白基因座表达的遗传机制。
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Antenatal diagnosis of severe beta thalassemia during the first trimester of pregnancy.妊娠早期严重β地中海贫血的产前诊断。
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8
The intrauterine diagnosis of hemoglobin disorders.血红蛋白疾病的宫内诊断。
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9
[Structure of the globin genes in persons with anomalous hemoglobins].[异常血红蛋白患者珠蛋白基因的结构]
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10
Detection and gene defects in the thalassemias and related disorders.地中海贫血及相关疾病的检测与基因缺陷
Ann N Y Acad Sci. 1980;344:1-11. doi: 10.1111/j.1749-6632.1980.tb33644.x.
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Sandwich ELISA for hemoglobin A2 quantification and identification of beta-thalassemia carriers.用于血红蛋白 A2 定量和β-地中海贫血携带者鉴定的夹心 ELISA 法。
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The organization of the beta-globin gene of the bivalve mollusc Anadara trapezia and its evolutionary relationship to other invertebrate and vertebrate globin genes.双壳贝类梯形不等蛤β-珠蛋白基因的组织及其与其他无脊椎动物和脊椎动物珠蛋白基因的进化关系。
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Molecular characterization of seven beta-thalassemia mutations in Asian Indians.亚洲印度人中七种β地中海贫血突变的分子特征分析
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A list of cloned human DNA sequences.已克隆的人类DNA序列列表。
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beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.中国的β地中海贫血：体内RNA分析和寡核苷酸杂交在分子缺陷系统表征中的应用
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Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe.通过翻译以及与互补DNA探针杂交对正常和突变腺苷脱氨酶信使核糖核酸进行特性分析。
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9
Beta-thalassemia disease prevention: genetic medicine applied.β地中海贫血疾病预防：应用的基因医学
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10
DNA restriction fragment length polymorphisms and heterozygosity in the human genome.人类基因组中的DNA限制性片段长度多态性与杂合性
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本文引用的文献
1
THALASSEMIA WITH COMPLETE ABSENCE OF HEMOGLOBIN A2 IN AN ADULT.一名成人患血红蛋白A2完全缺失的地中海贫血。
Acta Haematol. 1965 Mar;33:186-90. doi: 10.1159/000209527.
2
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Absence of haemoglobin A2 in an adult.成人血红蛋白A2缺失。
Nature. 1962 Sep 22;195:1215-6. doi: 10.1038/1951215a0.
4
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6
The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent.重复的人类α-珠蛋白基因的3'非翻译区出人意料地存在差异。
Cell. 1980 Nov;22(2 Pt 2):371-7. doi: 10.1016/0092-8674(80)90347-5.
7
The genetic basis of Hb Q-H disease.血红蛋白Q-H病的遗传基础。
Br J Haematol. 1980 Nov;46(3):387-400. doi: 10.1111/j.1365-2141.1980.tb05985.x.
8
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.
9
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.两种不同的分子组织构成了α地中海贫血-2基因型的单个α珠蛋白基因。
J Clin Invest. 1980 Dec;66(6):1319-25. doi: 10.1172/JCI109984.
10
Complete nucleotide sequence of the human delta-globin gene.人类δ-珠蛋白基因的完整核苷酸序列。
Cell. 1980 Oct;21(3):639-46. doi: 10.1016/0092-8674(80)90427-4.
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