Associated Papers
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M et al.
Bmc Medical Genomics, 2025
Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.
K P et al.
Journal of Biomolecular Structure & Dynamics, 2024
39671793 (PubMed )
Supplement: supplement_1.zip › Revised_supplementary_clean.docx
Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.
Shiihara T et al.
Brain & Development, 2016
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