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The cutaneous porphyrias.
Schulenburg-Brand D, Katugampola R, Anstey AV, Badminton MN. Schulenburg-Brand D, et al. Among authors: anstey av. Dermatol Clin. 2014 Jul;32(3):369-84, ix. doi: 10.1016/j.det.2014.03.001. Epub 2014 May 5. Dermatol Clin. 2014. PMID: 24891059 Review.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. Whatley SD, et al. Among authors: anstey av. Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18760763 Free PMC article.
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV. Katugampola RP, et al. Among authors: anstey av. Br J Dermatol. 2012 Oct;167(4):901-13. doi: 10.1111/j.1365-2133.2012.11160.x. Epub 2012 Sep 18. Br J Dermatol. 2012. PMID: 22816431
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Whatley SD, et al. Among authors: anstey av. Br J Dermatol. 2010 Mar;162(3):642-6. doi: 10.1111/j.1365-2133.2010.09631.x. Epub 2010 Jan 22. Br J Dermatol. 2010. PMID: 20105171
189 results