Sami Mustajoki

Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

Raili Kauppinen, Sami Mustajoki, Hannele Pihlaja et al. · Human Molecular Genetics · 1995 · 104 citations

Life Sciences, Genetics, Molecular Genetics +15

Insertion of Alu element responsible for acute intermittent porphyria

Sami Mustajoki, Helena Ahola, Pertti Mustajoki et al. · Human Mutation · 1999 · 37 citations

Life Sciences, Genetics, Molecular Genetics +13

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

Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile et al. · The American Journal of Human Genetics · 2023 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

Henrik Nissen, Niels Erik Petersen, Sami Mustajoki et al. · Human Mutation · 1997 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria

Sami Mustajoki, Hannele Pihlaja, Helena Ahola et al. · Human Genetics · 1998 · 30 citations

Life Sciences, Genetics, Molecular Genetics +10