A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

Open Access

Peer-reviewed

Research Article

Krastyu G. Ugrinov ,

Contributed equally to this work with: Krastyu G. Ugrinov, Stefan D. Freed

Affiliations Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America, Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America
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Stefan D. Freed ,

Contributed equally to this work with: Krastyu G. Ugrinov, Stefan D. Freed

Affiliations Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America, Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America
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Clayton L. Thomas,

Affiliations Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America, Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America
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Shaun W. Lee

* E-mail: lee.310@nd.edu

Affiliations Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America, Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, 46556, United States of America
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Point mutation
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Biosynthesis
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Algorithms
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Amino acid analysis
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Skewness
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Protein folding
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Mutation databases
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Heterozygosity
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