Ehlers-Danlos syndrome, vascular type: A novel missense mutation in theCOL3A1gene-Reference-Cited by-同舟云学术

Ehlers-Danlos syndrome, vascular type: A novel missense mutation in theCOL3A1gene

Published:2012-11-26 Issue:4 Volume:52 Page:207-210
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:

Author:

Masuno Mitsuo,Watanabe Atsushi,Naing Banyar Than,Shimada Takashi,Fujimoto Wataru,Ninomiya Shinsuke,Ueda Yasunori,Kadota Kazushige,Kotaka Tatsuya,Kondo Eisei,Yamanouchi Yasuko,Inoue Mika,Ouchi Kazunobu,Kuroki Yoshikazu

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1741-4520.2011.00353.x/fullpdf

Reference10 articles.

1. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy;Leistritz;Genet Med,2011

2. A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA;Naing;Biochem Biophys Res Commun,2011

3. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience;Oderich;J Vasc Surg,2005

4. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial;Ong;Lancet,2010

5. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type;Pepin;N Engl J Med,2000

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome;PLOS ONE;2018-01-18

2. The Genetic Base of Chronic Venous Disease: a Review of Modern Concepts;Flebologiia;2016

3. Biomolecular Mechanisms in Varicose Veins Development;Annals of Vascular Surgery;2015-02