Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

por Barbaro, Michela, Kotajärvi, Maire, Harper, Pauline, Floderus, Ylva
Publicado 2013

Haplotype Analysis of Norwegian and Swedish Patients with Acute Intermittent Porphyria (AIP): Extreme Haplotype Heterogeneity for the Mutation R116W

por Tjensvoll, Kjersti, Bruland, Ove, Floderus, Ylva, Skadberg, Øyvind, Sandberg, Sverre, Apold, Jaran
Publicado 2003

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals

por Lissing, Mattias, Vassiliou, Daphne, Floderus, Ylva, Harper, Pauline, Bottai, Matteo, Kotopouli, Marianna, Hagström, Hannes, Sardh, Eliane, Wahlin, Staffan
Publicado 2022

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Sheykhkarimli, Dayag, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C.H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K., Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

por van Loggerenberg, Warren, Sowlati-Hashjin, Shahin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Frésard, Laure, Mustajoki, Sami, Pischik, Elena, Di Pierro, Elena, Barbaro, Michela, Floderus, Ylva, Schmitt, Caroline, Gouya, Laurent, Colavin, Alexandre, Nussbaum, Robert, Friesema, Edith C. H., Kauppinen, Raili, To-Figueras, Jordi, Aarsand, Aasne K, Desnick, Robert J., Garton, Michael, Roth, Frederick P.
Publicado 2023