Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta-Reference-Cited by-同舟云学术

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Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

Published:2016-08-12 Issue:1 Volume:10 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Ho Duy Binh,Zhytnik Lidiia,Maasalu Katre,Kändla Ivo,Prans Ele,Reimann Ene,Märtson Aare,Kõks Sulev

Funder

Eesti Teadusagentuur

European Regional Development Fund

Seventh Framework Programme (BE)

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40246-016-0083-1

Reference28 articles.

1. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A:1470–81.

2. van Dijk FS, Byers PH, Dalgleish R, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;20:11–19.

3. Rauch F, Glorieux F. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85.

4. Pokidysheva E, Mizuno K, Bächinger HP. The collagen folding machinery: Biosynthesis and post-translational modifications of collagens. In: Jay R. Shapiro, Peter H. Byers, Francis H. Glorieux, Paul D. Sponseller, editors. Osteogenesis imperfecta a translational approach to brittle bone disease. London: Elsevier; 2014. p.57–70.

5. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28:209–21.

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