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Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Chassaing N, et al. Among authors: martin l. J Invest Dermatol. 2004 Mar;122(3):608-13. doi: 10.1111/j.0022-202X.2004.22312.x. J Invest Dermatol. 2004. PMID: 15086542 Free article.
Acquired pseudoxanthoma elasticum presenting after liver transplantation.
Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Bercovitch L, et al. Among authors: martin l. J Am Acad Dermatol. 2011 May;64(5):873-8. doi: 10.1016/j.jaad.2010.03.030. Epub 2011 Mar 12. J Am Acad Dermatol. 2011. PMID: 21397982 Free PMC article.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: martin l. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.
Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.
Prunier F, Terrien G, Le Corre Y, Apana AL, Bière L, Kauffenstein G, Furber A, Bergen AA, Gorgels TG, Le Saux O, Leftheriotis G, Martin L. Prunier F, et al. Among authors: martin l. PLoS One. 2013 Jul 23;8(7):e68700. doi: 10.1371/journal.pone.0068700. Print 2013. PLoS One. 2013. PMID: 23935882 Free PMC article. Clinical Trial.
7,660 results