| Novel SLC9A6 mutations in two families with Christianson syndrome. |
| English |
| 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. [> >] |
| 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 |