©American College of Medical Genetics original research article Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations

Source URL: www.nature.com

• Mutation
• Hereditary spastic paraplegia
• Alu element
• BRCA1
• SPG11
• Copy-number variation
• RNA splicing
• Retinal Degeneration
• Gene duplication
• Biology
• Genetics
• Molecular biology