Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands

Keyphrases

• Sanfilippo Syndrome 100%
• Founder mutation 100%
• Cayman Islands 100%
• Single-point mutation 40%
• Sulfamidase 40%
• Family Members 20%
• Lysosomal Storage Disease 20%
• Autosomal Recessive 20%
• Restriction Fragment Length Polymorphism 20%
• Carrier Screening 20%
• Single-strand Conformation Polymorphism 20%
• Sanfilippo 20%
• Carrier Frequency 20%
• Founder Effect 20%
• West Bay 20%
• Grand Cayman 20%
• Carrier Identification 20%
• Island Populations 20%
• Family Risk 20%
• Thermal Characteristics 20%

Biochemistry, Genetics and Molecular Biology

• Caiman 100%
• Sanfilippo Syndrome 100%
• Restriction Fragment Length Polymorphism 25%
• Autosomal Recessive Inheritance 25%
• Lysosomal Storage Disease 25%
• Single-Strand Conformation Polymorphism 25%
• Founder Effect 25%