Reference : Novel SLC9A6 mutations in two families with Christianson syndrome.
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17217
Novel SLC9A6 mutations in two families with Christianson syndrome.
English
Riess, A. [> >]
Rossier, E. [> >]
Krüger, Rejko mailto [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. [> >]
2013
Clinical genetics
83
6
596-7
Yes (verified by ORBilu)
0009-9163
1399-0004
Denmark
[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
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17217
10.1111/j.1399-0004.2012.01948.x

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