Uyanik, G. and Elcioglu, N. and Penzien, J. and Gross, C. and Yilmaz, Y. and Olmez, A. and Demir, E. and Wahl, D. and Scheglmann, K. and Winner, B. and Bogdahn, U. and Topaloglu, H. and Hehr, U. and Winkler, J. (2006) Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology 66 (7), pp. 1044-1048.
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BACKGROUND: Andermann syndrome (OMIM 218000) is an autosomal recessive motor-sensory neuropathy associated with developmental and neurodegenerative defects. The cerebral MRI reveals a variable degree of agenesis of the corpus callosum. Recently, truncating mutations of the KCC3 gene (also known as SLC12A6) have been associated with Andermann syndrome. METHODS: The authors assessed clinically and ...
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|Date:||11 April 2006|
|Institutions:||Medicine > Lehrstuhl für Neurologie|
|Dewey Decimal Classification:||600 Technology > 610 Medical sciences Medicine|
|Refereed:||Yes, this version has been refereed|
|Created at the University of Regensburg:||Unknown|
|Deposited on:||05 Mar 2007|
|Last modified:||13 Mar 2014 09:46|