Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene
Kauppinen, R, Mustajoki, S, Pihlaja, H, Peltonen, L, Mustajoki, P
Published in Human molecular genetics (01.02.1995)
Published in Human molecular genetics (01.02.1995)
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Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria
MUSTAJOKI, S, PIHLAJA, H, AHOLA, H, PETERSEN, N. E, MUSTAJOKI, P, KAUPPINEN, R
Published in Human genetics (01.05.1998)
Published in Human genetics (01.05.1998)
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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
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.
Published in American journal of human genetics (05.10.2023)
Published in American journal of human genetics (05.10.2023)
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Insertion of Alu element responsible for acute intermittent porphyria
Mustajoki, Sami, Ahola, Helena, Mustajoki, Pertti, Kauppinen, Raili
Published in Human mutation (1999)
Published in Human mutation (1999)
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Journal Article
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Warren Van Loggerenberg, Shahin Sowlati-Hashjin, Weile, Jochen, Hamilton, Rayna, Chawla, Aditya, Gebbia, Marinella, Kishore, Nishka, Fresard, Laure, Mustajoki, Sami, Pischik, Elena, Elena Di Pierro, 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
Published in bioRxiv (06.02.2023)
Published in bioRxiv (06.02.2023)
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Paper
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
Mustajoki, S, Kauppinen, R, Mustajoki, P, Suomalainen, A, Peltonen, L
Published in Genome research (01.11.1997)
Published in Genome research (01.11.1997)
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Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
Nissen, Henrik, Petersen, Niels Erik, Mustajoki, Sami, Hansen, Torben Stiig, Mustajoki, Pertti, Kauppinen, Raili, Hørder, Mogens
Published in Human mutation (1997)
Published in Human mutation (1997)
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