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Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.

作者信息

Li Qiaoli, Sadowski Sara, Uitto Jouni

出版信息

J Invest Dermatol. 2011 Mar;131(3):782-5. doi: 10.1038/jid.2010.384. Epub 2010 Dec 23.

DOI:10.1038/jid.2010.384
PMID:21179111
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3357056/
Abstract
摘要

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Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.婴儿型全身性动脉钙化和弹性假黄瘤可由 ENPP1 或 ABCC6 的突变引起。
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Pseudoxanthoma elasticum.弹性假黄瘤
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Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting.弹性假黄瘤：诊断学的进展和治疗研究进展：2010 年弹性假黄瘤国际研究会议总结。
Am J Med Genet A. 2011 Jul;155A(7):1517-26. doi: 10.1002/ajmg.a.34067. Epub 2011 Jun 10.

本文引用的文献

1
Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.弹性假黄瘤家族的突变分析（ABCC6）：具有预后意义的症状前检测
Br J Dermatol. 2010 Sep;163(3):641-3. doi: 10.1111/j.1365-2133.2010.09856.x. Epub 2010 May 11.
2
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.弹性假黄瘤：分子遗传学和可能的发病机制。
J Invest Dermatol. 2010 Mar;130(3):661-70. doi: 10.1038/jid.2009.411. Epub 2009 Dec 24.
3
The dynamic nature of Bruch's membrane.Bruch 膜的动态特性。
Prog Retin Eye Res. 2010 Jan;29(1):1-18. doi: 10.1016/j.preteyeres.2009.08.003. Epub 2009 Sep 10.
4
Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum.血管内皮生长因子基因多态性作为弹性假黄瘤眼部表现的预后标志物
Hum Mol Genet. 2009 Sep 1;18(17):3344-51. doi: 10.1093/hmg/ddp259. Epub 2009 May 30.
5
Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks.
Biochem Biophys Res Commun. 2009 Mar 13;380(3):548-53. doi: 10.1016/j.bbrc.2009.01.117. Epub 2009 Jan 25.
6
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.并存的弹性假黄瘤和维生素K依赖凝血因子缺乏症：GGCX基因突变的复合杂合性
Am J Pathol. 2009 Feb;174(2):534-40. doi: 10.2353/ajpath.2009.080865. Epub 2008 Dec 30.
7
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.弹性假黄瘤：临床表型、分子遗传学及推测的发病机制
Exp Dermatol. 2009 Jan;18(1):1-11. doi: 10.1111/j.1600-0625.2008.00795.x. Epub 2008 Oct 22.
8
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.一个具有弹性假黄瘤样表型的家族中GGCX和ABCC6基因的突变
J Invest Dermatol. 2009 Mar;129(3):553-63. doi: 10.1038/jid.2008.271. Epub 2008 Sep 18.
9
Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.ABCC6基因重排在法国患者弹性假黄瘤诊断中的作用
Hum Mutat. 2007 Oct;28(10):1046. doi: 10.1002/humu.9509.
10
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.弹性假黄瘤国际大型病例系列中ABCC6基因的突变检测及基因型-表型分析
J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6.