Inherited Peripheral Neuropathies Mutation Database

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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])

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