Associated Papers
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
Alaa El Din F et al.
Plos One, 2015
Deletion of the fission yeast homologue of human insulinase reveals a TORC1-dependent pathway mediating resistance to proteotoxic stress.
Beuzelin C et al.
Plos One, 2013
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
Ries-Levavi L et al.
Human Mutation, 2004
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