DNA repair disorders.
作者信息
Woods C G
机构信息
Department of Clinical Genetics, St James's University Hospital, Leeds.
出版信息
Arch Dis Child. 1998 Feb;78(2):178-84. doi: 10.1136/adc.78.2.178.
Abstract
摘要
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DNA repair disorders.DNA修复障碍
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本文引用的文献
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Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.侏儒中的先天性毛细血管扩张性红斑，类似红斑狼疮；可能是一种综合征实体。
AMA Am J Dis Child. 1954 Dec;88(6):754-8.
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Fanconi anaemia forges a novel pathway.范可尼贫血形成了一条新途径。
Nat Genet. 1996 Nov;14(3):240-2. doi: 10.1038/ng1196-240.
3
Molecular genetics of Bloom's syndrome.布卢姆综合征的分子遗传学
Hum Mol Genet. 1996;5 Spec No:1457-63. doi: 10.1093/hmg/5.supplement_1.1457.
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Hereditary nonpolyposis colorectal cancer (Lynch syndrome). An updated review.遗传性非息肉病性结直肠癌（林奇综合征）。最新综述。
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5
Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome.用于转录和DNA修复的不同形式的TFIIH：全酶TFIIH和核苷酸切除修复体。
Cell. 1995 Jan 13;80(1):21-8. doi: 10.1016/0092-8674(95)90447-6.
6
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.一个与PI-3激酶产物相似的共济失调毛细血管扩张症基因。
Science. 1995 Jun 23;268(5218):1749-53. doi: 10.1126/science.7792600.
7
Defective repair replication of DNA in xeroderma pigmentosum.着色性干皮病中DNA修复复制缺陷。
Nature. 1968 May 18;218(5142):652-6. doi: 10.1038/218652a0.
8
Rate of depurination of native deoxyribonucleic acid.天然脱氧核糖核酸的脱嘌呤速率
Biochemistry. 1972 Sep 12;11(19):3610-8. doi: 10.1021/bi00769a018.
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Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.着色性干皮病。830例已发表病例中的皮肤、眼部及神经异常。
Arch Dermatol. 1987 Feb;123(2):241-50. doi: 10.1001/archderm.123.2.241.
10
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.共济失调毛细血管扩张症基因定位于11号染色体q22 - 23区。
Nature. 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0.
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