Associated Papers
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
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
Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria.
Frank J et al.
Clinical and Experimental Dermatology, 1999
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