Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases.

@article{CerveraCarles2016CopyNV,
  title={Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases.},
  author={Laura Cervera-Carles and Javier Pagonabarraga and Berta Pascual-Sedano and Pau Pastor and Ant{\`o}nia Campolongo and Juan O. Fortea and Rafael Blesa and Daniel Alcolea and Estrella Morenas-Rodr{\'i}guez and Isabel Sanfeliu Sala and Alberto Lle{\'o} and Jaime J. Kulisevsky and Jordi Clarim{\'o}n},
  journal={American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics},
  year={2016},
  volume={171B 2},
  pages={175-80}
}
The H1 haplotype of the 17q21.31 inversion polymorphism has been consistently associated with progressive supranuclear palsy, corticobasal degeneration, and Parkinson's disease in Caucasians. Recently, large polymorphic segmental duplications resulting into complex rearrangements at this locus with a high diversity range in human populations have been revealed. We sought to explore whether the two multi-allelic copy number variants that are present in the H1 clade (with segmental duplications… CONTINUE READING
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