Article
[Searching for Tourette's syndrome gene. Part 2. Patient's genome variability].
Postepy higieny i medycyny doswiadczalnej (Online) - 24 Feb 2012
Kowalska Anna, Midro Alina T, Janik Piotr, Gogol Anna, Służewski Wojciech, Rajewski Andrzej
Abstract excerpt
Gilles de la Tourette syndrome (GTS) is a complex, heterozygous genetic disorder. Twenty chromosomal rearrangements (7q22-q31, 8q13-q22, and 18q22) indicating genomic regions which may be involved in the etiology of the disorder have been reported in families with GTS. Moreover, pathogenic mutations responsible for GTS were found in the SLITRK1 and the L-histidine decarboxylase (HDC) genes. The W317X mutation in...
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