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International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. Chen B, et al. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10. Genet Med. 2019. PMID: 31073229 Free PMC article.
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.
To-Figueras J, Ducamp S, Clayton J, Badenas C, Delaby C, Ged C, Lyoumi S, Gouya L, de Verneuil H, Beaumont C, Ferreira GC, Deybach JC, Herrero C, Puy H. To-Figueras J, et al. Blood. 2011 Aug 11;118(6):1443-51. doi: 10.1182/blood-2011-03-342873. Epub 2011 Jun 7. Blood. 2011. PMID: 21653323 Free article.
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Schmitt C, Lenglet H, Yu A, Delaby C, Benecke A, Lefebvre T, Letteron P, Paradis V, Wahlin S, Sandberg S, Harper P, Sardh E, Sandvik AK, Hov JR, Aarsand AK, Chiche L, Bazille C, Scoazec JY, To-Figueras J, Carrascal M, Abian J, Mirmiran A, Karim Z, Deybach JC, Puy H, Peoc'h K, Manceau H, Gouya L. Schmitt C, et al. J Intern Med. 2018 Jul;284(1):78-91. doi: 10.1111/joim.12750. Epub 2018 Mar 26. J Intern Med. 2018. PMID: 29498764 Free article.
105 results