Pseudoxanthoma elasticum revealed
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Drug Discovery,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1007/s001090000119.pdf
Reference12 articles.
1. Struk B, Cai L, Zäch S, Ji W, Chung J, Lumsden A, Stumm M, Schaen L, Goldsmith LA, Viljoen D, Figuera LE, Fuchs W, Ramesar R, Hohl D, Richards R, Neldner KH, Lindpaintner K (2000) Mutations of the gene encoding the transmembrane transporter protein, ABC-C6, cause pseudoxanthoma elasticum. J Mol Med DOI 10.1007/s001090000114
2. Scully RE, Mark EJ, McNeely BU (1983) Case records of the Massachusetts General Hospital: case 10-1983. N Engl J Med 308:579–585
3. Lebwohl M, Halperin J, Phelps RG (1993) Occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med 329:1237–1239
4. Rühlmann C, Wittig I, Lochner A, Klützer B, Wilke B, Mittag M, Pheiffer D (1998) Das Grönblad-Strandberg-Syndrom aus angiologischer sicht. Dtsch Med Wochenschr 123:312–317
5. Van Soest S, Swart J, Tijmes N, Sandkuijl LA, Rommers J, Bergen AAB (1997) A locus for autosomal recessive pseudoxanthoma elasticum with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res 7:830–834
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