c.1898C>G/p.Ser633Trp Mutation in Alpha-l-Iduronidase: Clinical and Structural Implications

Medicina y ciencias biológicas

• Iduronidase 100%
• Mucopolysaccharidosis I 87%
• Mutation 34%
• Molecular Dynamics Simulation 22%
• Enzymes 22%
• Phenotype 18%
• Catalytic Domain 18%
• Glycosaminoglycans 10%
• Cell Body 10%
• DNA Sequence Analysis 10%
• Polysaccharides 9%
• Inborn Genetic Diseases 9%
• Exons 8%
• Genes 8%
• Amino Acids 7%
• DNA 5%

Ingeniería y ciencia de los materiales

• Enzymes 70%
• Molecular dynamics 45%
• DNA 42%
• Genes 38%
• Glycosaminoglycans 36%
• Enzyme activity 32%
• Amino acids 24%
• Assays 23%
• Structural dynamics 22%
• Computer simulation 22%
• Blood 18%

Química

• Mutation 51%
• Enzyme Activity 50%
• Molecular Dynamics 29%
• N-Glycan 25%
• Simulation 25%
• DNA Sequencing 25%
• Glycosaminoglycan 23%
• Amino-Acid Residue 18%