Novel SLC9A6 mutations in two families with Christianson syndrome.

Reference : Novel SLC9A6 mutations in two families with Christianson syndrome.


	Document type :	Scientific journals : Article
	Discipline(s) :	Life sciences : Genetics & genetic processes
	To cite this reference:	http://hdl.handle.net/10993/17217

Title :	Novel SLC9A6 mutations in two families with Christianson syndrome.
Language :	English
Author, co-author :	Riess, A. [> >]
	Rossier, E. [> >]
	Krüger, Rejko [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
	Dufke, A. [> >]
	Beck-Woedl, S. [> >]
	Horber, V. [> >]
	Alber, M. [> >]
	Glaser, D. [> >]
	Riess, O. [> >]
	Tzschach, A. [> >]
Publication date :	2013
Journal title :	Clinical genetics
Volume :	83
Issue/season :	6
Pages :	596-7
Peer reviewed :	Yes (verified by ORBi^lu)
ISSN :	0009-9163
e-ISSN :	1399-0004
Country :	Denmark
Keywords :	[en] Abnormalities, Multiple/genetics/pathology ; Ataxia/pathology ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Diseases, X-Linked/genetics/pathology ; Genetic Predisposition to Disease/genetics ; Humans ; Intellectual Disability/pathology ; Male ; Microcephaly/pathology ; Mutation ; Pedigree ; Seizures/pathology ; Sex Factors ; Sodium-Hydrogen Antiporter/genetics ; Syndrome
Research centres :	Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
Permalink :	http://hdl.handle.net/10993/17217
DOI :	10.1111/j.1399-0004.2012.01948.x

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