Sökning: "repeat expansion"
Visar resultat 1 - 5 av 32 avhandlingar innehållade orden repeat expansion.
1. Myotonic dystrophy type 1. Cognition, personality and emotion
Sammanfattning : kommer senare.... LÄS MER
2. Variation in length of proteins by repeats and disorder regions
Sammanfattning : Protein-coding genes evolve together with their genome and acquire changes, some of which affect the length of their protein products. This explains why equivalent proteins from different species can exhibit length differences. LÄS MER
3. Targeted Long-read Sequencing : Development and Applications in Medical Genetics
Sammanfattning : Targeted sequencing has the advantage of providing pinpointed DNA information, while costs and data-analysis efforts are reduced. If targeted sequencing is combined with single molecule long-read sequencing, it can become a powerful tool to investigate genomic regions traditionally difficult using the predominantly used short-read sequencing platforms, including repetitive regions and large structural variants. LÄS MER
4. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene
Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. LÄS MER
5. Personality and facial emotion recognition ability in myotonic dystrophy type 1
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