Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Por Badenas, C, To-Figueras, J, Phillips, JD, Warby, CA, Muñoz, C, Herrero, C
Publicado em 2009

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

Por Moghe, A., Ramanujam, V.M.S., Phillips, J.D., Desnick, R.J., Anderson, K.E.
Publicado no Mol Genet Metab Rep (2019)