Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/RSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Medicin og biovidenskab

• Denaturing Gradient Gel Electrophoresis 100%
• Tuberous Sclerosis 88%
• Multiplex Polymerase Chain Reaction 80%
• Polymerase Chain Reaction 42%
• Mutation 40%
• Hamartoma 7%
• Missense Mutation 6%
• Autistic Disorder 5%
• Tumor Suppressor Genes 5%
• Renal Insufficiency 5%
• Epilepsy 5%
• Exons 4%
• Heart Failure 4%
• Costs and Cost Analysis 3%
• Proteins 2%
• Neoplasms 1%