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Citation: Km. Chow et al., Clinical and genetic features of variegate porphyria in a Chinese patient, CHIN MED J, 114(4), 2001, pp. 424-427

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Citation: J. Lamoril et al., Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria, AM J HU GEN, 68(5), 2001, pp. 1130-1138

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Citation: Sd. Whatley et al., Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBSgene, HUM GENET, 107(3), 2000, pp. 243-248

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Citation: Jj. Brady et al., Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda, J INVES DER, 115(5), 2000, pp. 868-874

Authors: Whatley, SD Woolf, JR Elder, GH

Citation: Sd. Whatley et al., Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations, HUM GENET, 104(6), 1999, pp. 505-510

Authors: Whatley, SD Puy, H Morgan, RR Robreau, AM Roberts, AG Nordmann, Y Elder, GH Deybach, JC

Citation: Sd. Whatley et al., Variegate porphyria in western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation, AM J HU GEN, 65(4), 1999, pp. 984-994