Clinical utility gene card for: Alport syndrome.
作者信息
Hertz Jens Michael, Thomassen Mads, Storey Helen, Flinter Frances
机构信息
Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark.
出版信息
Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2011.237. Epub 2011 Dec 14.
Abstract
摘要
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本文引用的文献
1
The value of clinical criteria in identifying patients with X-linked Alport syndrome.临床标准在识别 X 连锁 Alport 综合征患者中的价值。
Clin J Am Soc Nephrol. 2011 Jan;6(1):198-203. doi: 10.2215/CJN.00200110. Epub 2010 Sep 30.
2
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.多重连接探针扩增技术（MLPA）和互补DNA（cDNA）分析可提高X连锁遗传性肾炎中Ⅳ型胶原α5链（COL4A5）基因突变的检测率。
Clin Genet. 2008 Dec;74(6):522-30. doi: 10.1111/j.1399-0004.2008.01051.x. Epub 2008 Jun 26.
3
Alport syndrome in southern Sweden.瑞典南部的奥尔波特综合征
Clin Nephrol. 2005 Aug;64(2):85-90. doi: 10.5414/cnp64085.
4
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.X连锁遗传性肾炎：195个家系的自然病史及男性患者的基因型-表型相关性
J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649.
5
Alport's syndrome in 78 patients: epidemiological and clinical study.78例阿尔波特综合征患者的流行病学及临床研究
Acta Paediatr. 1996 Nov;85(11):1300-6. doi: 10.1111/j.1651-2227.1996.tb13915.x.
6
X-linked inheritance of Alport syndrome: family P revisited.X连锁遗传性奥尔波特综合征：对家族P的再研究
Am J Hum Genet. 1983 Nov;35(6):1241-51.
7
Genetics of classic Alport's syndrome.经典型阿尔波特综合征的遗传学
Lancet. 1988 Oct 29;2(8618):1005-7. doi: 10.1016/s0140-6736(88)90753-2.
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