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Journal Article

High rate of constitutional chromosomal rearrangements in apparently sporadic ALS

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50369

Kalscheuer,  V. M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50501

Ropers,  H. H.
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Meyer, T., Alber, B., Roemer, K., Martin, T., Kalscheuer, V. M., Gottert, E., et al. (2003). High rate of constitutional chromosomal rearrangements in apparently sporadic ALS. Neurology, 60(8), 1348-1350.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-8A66-A
Abstract
Of 85 patients with ALS, the authors identified 3 patients with balanced translocations and 2 patients with pericentric inversions, all affecting distinct chromosomal loci. The high rate of constitutional aberrations (5.9%) suggests that ALS is, in part, associated with recombination-based rearrangements of genomic sequences.