A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

Keyphrases

• Enzymatic Activity 100%
• Atypical Usher Syndrome 100%
• Arylsulfatase G 100%
• Missense Variant 100%
• Late-onset 66%
• Functional Analysis 66%
• Mutant Protein 66%
• Usher Syndrome 66%
• Sensorineural Hearing Loss 66%
• Homozygosity 33%
• Conserved Amino Acids 33%
• Hearing Impairment 33%
• Whole Genome Sequencing 33%
• Atrophy 33%
• Moderate to Severe 33%
• Whole Exome Sequencing 33%
• Clinical Manifestations 33%
• Cause of Disease 33%
• Lysosomal Storage Disease 33%
• Basal Activity 33%
• Catalytic Site 33%
• Protein S Deficiency 33%
• Fovea 33%
• Retinal Phenotype 33%
• Retinal Degeneration 33%
• Vision Loss 33%
• Arcade 33%
• Atypical Forms 33%
• Scotoma 33%
• Human Fibrosarcoma Cells 33%
• Jewish Ethnicity 33%
• Ring-shaped 33%

Biochemistry, Genetics and Molecular Biology

• Enzyme Activity 100%
• Missense 100%
• Sulfatase 100%
• Arylsulfatase 100%
• Hearing 100%
• Wild Type 66%
• Mutant Protein 66%
• Enzyme 33%
• Amino Acids 33%
• Whole Genome Sequencing 33%
• Exome Sequencing 33%
• Homozygosity 33%
• Lysosomal Storage Disease 33%

Medicine and Dentistry

• Arylsulfatase 100%
• Sulfatase 100%