Deep genotyping of the IDS gene in colombian patients with hunter syndrome

INIS

• genes 100%
• patients 100%
• mutations 100%
• phenotype 66%
• enzymes 50%
• tools 33%
• interactions 33%
• correlations 33%
• genotype 33%
• exons 33%
• substrates 33%
• sulfates 33%
• mutants 33%
• proteins 16%
• accumulation 16%
• catalysis 16%
• rflps 16%
• catabolism 16%
• conversion 16%

Biochemistry, Genetics and Molecular Biology

• Genotyping 100%
• Hunter Syndrome 100%
• Iduronate-2-Sulfatase 100%
• Exon 50%
• Genotype Phenotype Correlation 50%
• Enzyme Substrate Complex 50%
• Bioinformatics 50%
• Wild Type 25%
• Frameshift Mutation 25%
• Multiplex Ligation-Dependent Probe Amplification 25%
• Mucopolysaccharidosis 25%
• Docking (Molecular) 25%
• Restriction Fragment Length Polymorphism 25%
• Glycosaminoglycan 25%
• Dermatan Sulfate 25%
• Heparan Sulfate 25%
• Enzyme Catalysis 25%

Keyphrases

• Neuronopathy 66%
• Enzyme-substrate Interaction 66%
• Frameshift mutation 33%
• Exon Sequencing 33%
• Enzyme Catalysis 33%