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Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: te velde k. J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734717 Free article.
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: te velde k. Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x. Br J Dermatol. 2012. PMID: 21910705
[A patient with acute porphyria].
te Velde K, Wilson JH. te Velde K, et al. Ned Tijdschr Geneeskd. 1985 Nov 9;129(45):2174-6. Ned Tijdschr Geneeskd. 1985. PMID: 4080010 Dutch. No abstract available.
15 results