Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease

Keyphrases

• Canavan Disease 100%
• Aspartoacylase 100%
• Turkish Patients 100%
• Splicing mutation 100%
• Neurodegenerative 33%
• Ashkenazi Jews 33%
• Autosomal Recessive 33%
• Jewish 33%
• Leukodystrophy 33%
• First Cousin 33%
• Donor Splice Site 33%

Biochemistry, Genetics and Molecular Biology

• Canavan Disease 100%
• Aspartoacylase 100%
• Splice Site Mutation 100%
• Intron 33%
• Autosomal Recessive Inheritance 33%