Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region-Reference-Cited by-同舟云学术

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Published:2010-01-15 Issue:2 Volume:55 Page:112-117
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Costrop Laura MF,Vanakker Olivier OM,Van Laer Lut,Le Saux Olivier,Martin Ludovic,Chassaing Nicolas,Guerra Deanna,Ronchetti Ivonne Pasquali-,Coucke Paul J,De Paepe Anne

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2009132.pdf

Reference23 articles.

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2. Vanakker, O. M., Leroy, B. P., Coucke, P., Bercovitch, L. G., Uitto, J., Viljoen, D. et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum. Mutat. 29, 205 (2008).

3. Neldner, K. H. Pseudoxanthoma elasticum. Clin. Dermatol. 6, 1–159 (1988).

4. Jiang, Q., Endo, M., Dibra, F., Wang, K. & Uitto, J. Pseudoxanthoma elasticum is a metabolic disease. J. Invest. Dermatol. 129, 348–354 (2009).

5. Le Saux, O., Bunda, S., VanWart, C. M., Douet, V., Got, L., Martin, L. et al. Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro. J. Invest. Dermatol. 126, 1497–1505 (2006).

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