Associated Papers
Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.
Coutinho MF et al.
Diagnostics (basel, Switzerland), 2020
31973102 (PubMed )
Supplement: diagnostics-10-00058-s001.pdf
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
Gan-Or Z et al.
Neurogenetics, 2011
Select a paper to view details