Thin basement membrane nephropathy: is there genetic predisposition to more severe disease?
作者信息
Deltas Constantinos
出版信息
Pediatr Nephrol. 2009 Apr;24(4):877-9. doi: 10.1007/s00467-008-1042-4. Epub 2008 Nov 19.
Abstract
摘要
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The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults.在美国成年人的一个基于人群的大样本中，足突蛋白R229Q多态性与蛋白尿增加或估计肾小球滤过率降低之间的关联。
Am J Kidney Dis. 2008 Nov;52(5):868-75. doi: 10.1053/j.ajkd.2008.02.306. Epub 2008 May 21.
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COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.在可追溯至18世纪左右的患有薄基底膜肾病和局灶节段性肾小球硬化的希族塞人家庭中发现的COL4A3创始突变。
Genet Test. 2008 Jun;12(2):273-8. doi: 10.1089/gte.2007.0110.
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COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.在薄基底膜肾病中产生局灶节段性肾小球硬化和肾衰竭的COL4A3/COL4A4突变。
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Thin basement membrane nephropathy associated with other glomerular diseases.与其他肾小球疾病相关的薄基底膜肾病
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