Associated Papers
DiMeX: A Text Mining System for Mutation-Disease Association Extraction.
Mahmood AS et al.
Plos One, 2016
27073839 (PubMed )
Supplement: pone.0152725.s003.xlsx › Sheet1
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Van Tuyll Van Serooskerke AM et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Porphyria in Switzerland, 15 years experience.
Schneider-Yin X et al.
Swiss Medical Weekly, 2009
Swiss patients with variegate porphyria have unique mutations.
Schneider-Yin X et al.
Swiss Medical Weekly, 2006
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.
Whatley SD et al.
American Journal of Human Genetics, 1999
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