Associated Papers
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction.
Ishii N et al.
Journal of Human Genetics, 2006
Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.
Palm T et al.
Biophysical Journal, 2001
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