ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum-Reference-Cited by-同舟云学术

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

Published:2003-03 Issue:3 Volume:11 Page:215-224
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hu Xiaofeng,Plomp Astrid,Wijnholds Jan,ten Brink Jacoline,van Soest Simone,van den Born L Ingeborgh,Leys Anita,Peek Ron,de Jong Paulus T V M,Bergen Arthur A B

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200953.pdf

Reference41 articles.

1. Goodman RM, Smith EW, Paton D et al: Pseudoxanthoma elasticum: a clinical and histopathological study. Medicine 1963; 42: 297–334.

2. Lebwohl M, Schwartz E, Lemlich G et al: Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum. Arch Dermatol 1993; 285: 121–126.

3. McKusick VA : Pseudoxanthoma elasticum, in Mckusick VA: Heritable disorders of connective tissue. St Louis: Mosby, 1972, pp 475–520.

4. Sherer DW, Bercovitch L, Lebwohl M : Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring. J Am Acad Dermatol 2001; 44: 534–537.

5. Uitto J, Boyd C, Lebwohl M, Rosenbloom J, Terry S : International Centennial Meeting of Pseudoxanthoma Elasticum: progress in PXE research. J Invest Dermatol 1998; 110: 840–842.

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