Associated Papers
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
30165862 (PubMed )
Supplement: 12967_2018_1605_MOESM3_ESM.xlsx › Sheet1
Structure of a presenilin family intramembrane aspartate protease.
Li X et al.
Nature, 2013
Three-dimensional models and structure analysis of corynemycolyltransferases in Corynebacterium glutamicum and Corynebacterium efficiens.
Adindla S et al.
International Journal of Biological Macromolecules, 2004
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
Mohsen AW et al.
Biochemistry, 1998
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