A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo Syndrome)

PLoS ONE

Volumn 10, Issue 3, 2015, Pages

  Ugrinov, Krastyu G ^a   Freed, Stefan D ^a   Thomas, Clayton L ^a   Lee, Shaun W ^a  

^a UNIVERSITY OF NOTRE DAME   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYSOSOME ENZYME; PROTEIN SGSH; UNCLASSIFIED DRUG;

ARTICLE; BIOGENESIS; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME MECHANISM; ENZYME STABILITY; GENE; GENE MUTATION; GENE PRODUCT; GENETIC ALGORITHM; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MATHEMATICAL COMPUTING; MUTATIONAL ANALYSIS; PARAMETRIC TEST; PATIENT ASSESSMENT; PHENOTYPE; PROTEIN FOLDING; QUANTITATIVE ANALYSIS; SANFILIPPO SYNDROME; SGSH GENE; ALGORITHM; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PROCEDURES;

ALGORITHMS; DNA MUTATIONAL ANALYSIS; HUMANS; MUCOPOLYSACCHARIDOSIS III; MUTATION; PHENOTYPE;

EID: 84926173546     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0121511     Document Type: Article

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