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1
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.
Nucleic Acids Res. 1982 Dec 20;10(24):8025-9. doi: 10.1093/nar/10.24.8025.
2
Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.
J Biol Chem. 1983 Jun 25;258(12):7249-51.
3
Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.
Nucleic Acids Res. 1982 Feb 25;10(4):1283-94. doi: 10.1093/nar/10.4.1283.
4
Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.
Proc Natl Acad Sci U S A. 1979 May;76(5):2400-4. doi: 10.1073/pnas.76.5.2400.
5
Structure of cloned delta-globin genes from a normal subject and a patient with delta-thalassemia; sequence polymorphisms found in the delta-globin gene region of Japanese individuals.
Nucleic Acids Res. 1982 Oct 11;10(19):5725-32. doi: 10.1093/nar/10.19.5725.
6
Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene.
Proc Natl Acad Sci U S A. 1980 Jun;77(6):3558-62. doi: 10.1073/pnas.77.6.3558.
7
Analysis of an inversion within the human beta globin gene cluster.
Nucleic Acids Res. 1985 Apr 25;13(8):2897-906. doi: 10.1093/nar/13.8.2897.
8
[A novel Chinese beta-thalassemia mutation--4bp deletion (AAAC) downstream from the cap site].
Zhonghua Yi Xue Za Zhi. 1991 Apr;71(4):205-7, 16.
9
Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.
Blood. 1988 Aug;72(2):636-41.
10
DNA sequence analysis of the Dutch beta zero-thalassemia deletion.
Biomed Biochim Acta. 1987;46(2-3):S131-5.
引用本文的文献
1
Revisiting a Complex Rearrangement Involving a 619 Base Pairs Deletion, 6 Nucleotide Insertion Followed by a A > G Substitution Causing β°-Thalassemia.
Indian J Hematol Blood Transfus. 2016 Dec;32(4):500-503. doi: 10.1007/s12288-016-0682-y. Epub 2016 May 26.
2
Non-homologous DNA end joining in plant cells is associated with deletions and filler DNA insertions.
Nucleic Acids Res. 1997 Nov 15;25(22):4650-7. doi: 10.1093/nar/25.22.4650.
3
DNA alterations detected in the progeny of paternally irradiated Japanese medaka fish (Oryzias latipes).
Proc Natl Acad Sci U S A. 1995 Jan 3;92(1):330-4. doi: 10.1073/pnas.92.1.330.
4
Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.
J Med Genet. 1993 Mar;30(3):240-4. doi: 10.1136/jmg.30.3.240.
5
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
EMBO J. 1984 Mar;3(3):593-6. doi: 10.1002/j.1460-2075.1984.tb01853.x.
6
The thalassemias: molecular mechanisms of human genetic disease.
Am J Hum Genet. 1983 May;35(3):333-61.
7
Analysis of an inversion within the human beta globin gene cluster.
Nucleic Acids Res. 1985 Apr 25;13(8):2897-906. doi: 10.1093/nar/13.8.2897.
8
DNA polymorphism and molecular pathology of the human globin gene clusters.
Hum Genet. 1985;69(1):1-14. doi: 10.1007/BF00295521.
9
Molecular characterization of an atypical beta-thalassemia caused by a large deletion in the 5' beta-globin gene region.
Am J Hum Genet. 1986 Dec;39(6):797-810.
10
Structures of spontaneous deletions in Caenorhabditis elegans.
Mol Cell Biol. 1988 Sep;8(9):3748-54. doi: 10.1128/mcb.8.9.3748-3754.1988.
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beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.
J Biol Chem. 1982 Jun 10;257(11):5994-6.
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Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
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The structure and evolution of the human beta-globin gene family.
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Mutation in an intervening sequence splice junction in man.
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Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.
Nucleic Acids Res. 1982 Feb 25;10(4):1283-94. doi: 10.1093/nar/10.4.1283.
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Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
Nature. 1982 Apr 15;296(5858):627-31. doi: 10.1038/296627a0.
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Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
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Structure and expression of a cloned beta o thalassaemic globin gene.
Nucleic Acids Res. 1981 Sep 11;9(17):4391-401. doi: 10.1093/nar/9.17.4391.
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A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.
Proc Natl Acad Sci U S A. 1981 Jul;78(7):4218-21. doi: 10.1073/pnas.78.7.4218.
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A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.
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