Genetic diagnosis of autosomal dominant polycystic kidney disease: linkage analysis versus direct mutation analysis.
作者信息
Lee Kyu-Beck
机构信息
Division of Nephrology, Department of Internal Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, 29 Saemunanro, Jongno-gu, Seoul 03181, Korea.
出版信息
Kidney Res Clin Pract. 2016 Jun;35(2):67-8. doi: 10.1016/j.krcp.2016.04.004. Epub 2016 May 5.
Abstract
摘要
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PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.一个伊朗常染色体显性遗传性多囊肾病家系中 PKD2 基因突变与误导性连锁分析数据。
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2
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.非截短型PKD1突变的预测突变强度有助于常染色体显性多囊肾病的基因型-表型关联研究
J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28.
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Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.完善常染色体显性多囊肾病的基因型 - 表型相关性
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Autosomal dominant polycystic kidney disease: the changing face of clinical management.常染色体显性遗传性多囊肾病：临床管理的变化。
Lancet. 2015 May 16;385(9981):1993-2002. doi: 10.1016/S0140-6736(15)60907-2.
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Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on.常染色体显性多囊肾病的遗传学与发病机制：二十年回顾
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Type of PKD1 mutation influences renal outcome in ADPKD.PKD1 突变类型影响 ADPKD 的肾脏结局。
J Am Soc Nephrol. 2013 May;24(6):1006-13. doi: 10.1681/ASN.2012070650. Epub 2013 Feb 21.
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Linkage analysis in the next-generation sequencing era.下一代测序时代的连锁分析。
Hum Hered. 2011;72(4):228-36. doi: 10.1159/000334381. Epub 2011 Dec 23.
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Practical genetics for autosomal dominant polycystic kidney disease.常染色体显性遗传性多囊肾病的实用遗传学。
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Incident renal events and risk factors in autosomal dominant polycystic kidney disease: a population and family-based cohort followed for 22 years.常染色体显性多囊肾病的肾脏事件及危险因素：一项基于人群和家庭的队列研究，随访22年
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