| Title | The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. |
|---|---|
| Authors | Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA |
| Reference | Nat Genet 32: 384-392, 2002 (PubMed ID: 12368912 ) |
| SLC12A6 (KCC3): ([Arg675X]+[Arg675X]) ([Thr813fs]+[Thr813fs]) ([Thr813fs]+[Phe529fs]) ([Arg1011X]+[Arg1011X]) | |
| Mutations |
