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Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome

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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Other URL: http://dx.doi.org/10.1212/01.wnl.0000204181.31175.8b


Abstract

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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Item Type:Article
Date:11 April 2006
Institutions:Medicine > Lehrstuhl für Neurologie
Identification Number:
ValueType
10.1212/01.wnl.0000204181.31175.8bDOI
16606917PubMed ID
Subjects:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Owner: Ute Lange
Deposited On:05 Mar 2007
Last Modified:13 Mar 2014 09:46
Item ID:1213
Owner Only: item control page

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