Structural study on mutant α-L-iduronidases: Insight into mucopolysaccharidosis type I

Journal of Human Genetics

Volumn 53, Issue 5, 2008, Pages 467-474

  Sugawara, Kanako ^a   Saito, Seiji ^b   Ohno, Kazuki ^c,e   Okuyama, Torayuki ^d   Sakuraba, Hitoshi ^a  

^a MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c Tokyo Institute of Technology ^*  (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e ASTELLAS PHARMA INC   (Japan)

Author keywords

L Iduronidase; Hurler syndrome; Hurler Scheie syndrome; Mucopolysaccharidosis type I; Protein structure; Scheie syndrome

Indexed keywords

AMINO ACID; LEVO IDURONIDASE; MUTANT PROTEIN; SOLVENT;

AMINO ACID SUBSTITUTION; ARTICLE; ATOM; DISEASE SEVERITY; ENZYME STRUCTURE; GENE MUTATION; HURLER SYNDROME; IMAGING; MUTATIONAL ANALYSIS; PHENOTYPE; STRUCTURE ANALYSIS;

AMINO ACID SUBSTITUTION; HUMANS; IDURONIDASE; MODELS, MOLECULAR; MUCOPOLYSACCHARIDOSIS I; MUTATION, MISSENSE;

EID: 43449095983     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0272-4     Document Type: Article

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