Article
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Molecular genetics and genomics : MGG - 1 Jan 2007
Petek Erwin, Schwarzbraun Thomas, Noor Abdul, Patel Megha, Nakabayashi Kazuhiko, Choufani Sanaa, Windpassinger Christian, Stamenkovic Mara, Robertson Mary M, Aschauer Harald N, Gurling Hugh M D, Kroisel Peter M, Wagner Klaus, Scherer Stephen W, Vincent John B
Abstract excerpt
We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to...
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