The molecular genetics of Alport syndrome: report of two workshops.
作者信息
Flinter F, Bobrow M
机构信息
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London.
出版信息
J Med Genet. 1992 May;29(5):352-3. doi: 10.1136/jmg.29.5.352.
Abstract
摘要
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J Med Genet. 1992 May;29(5):352-3. doi: 10.1136/jmg.29.5.352.
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AMA Arch Intern Med. 1951 Aug;88(2):191-200. doi: 10.1001/archinte.1951.03810080059006.
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Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.通过核糖核酸酶切割RNA:DNA双链体中的错配来检测单碱基替换
Science. 1985 Dec 13;230(4731):1242-6. doi: 10.1126/science.4071043.
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The clinical spectrum of hereditary nephritis.
Kidney Int. 1985 Jan;27(1):83-92. doi: 10.1038/ki.1985.14.
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Mapping of Alport syndrome to the long arm of the X chromosome.奥尔波特综合征基因定位到X染色体长臂
Am J Hum Genet. 1988 Feb;42(2):249-55.
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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.单碱基对错配中胞嘧啶和胸腺嘧啶与羟胺和四氧化锇的反应性及其在突变研究中的应用
Proc Natl Acad Sci U S A. 1988 Jun;85(12):4397-401. doi: 10.1073/pnas.85.12.4397.
6
Localization of the gene for X-linked Alport's syndrome.X连锁遗传性肾炎综合征基因的定位
Kidney Int. 1988 Oct;34(4):507-10. doi: 10.1038/ki.1988.210.
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Anti-glomerular basement membrane antibody-mediated nephritis complicating transplantation in a patient with Alport's syndrome.
Transplantation. 1988 Dec;46(6):857-9. doi: 10.1097/00007890-198812000-00013.
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Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.编码基底膜α1（IV）和α2（IV）链的人类胶原蛋白基因定位于13号染色体长臂远端。
Proc Natl Acad Sci U S A. 1987 Jan;84(2):512-6. doi: 10.1073/pnas.84.2.512.
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Genetics of classic Alport's syndrome.经典型阿尔波特综合征的遗传学
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