Article

Massively parallel next generation sequencing to investigate the cis- and trans-acting genetic modifiers of somatic instability in Huntington's disease

2018-01-01

Abstract excerpt

Huntington disease (HD) is an extremely variable inherited neurodegenerative disorder caused by expansion of an unstable CAG trinucleotide repeat in the huntingtin gene (HTT). Somatic instability in HD exhibits an age-dependent, expansion-biased and tissue-specific pattern, and the highest level of somatic instability is found in tissues that are most susceptible to the disease pathology. Therefore, the aim of thi...

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Literature Corpus work: 54e49177-5d40-5386-8c10-2b7ba61588b0
DOI: 10.5525/gla.thesis.30752

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