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, Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy
, Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike
, Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio
, Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard
, Sheridan, Eamonn and Kleta, Robert
(2009)
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations.
New England Journal of Medicine 360 (19), pp. 1960-1970.
Fulltext not available.
, Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M
, Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef
, Warth, Richard
, Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois
, Gahl, William A and Koizumi, Akio
(2004)
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature Genetics 36 (9), pp. 999-1002.
Fulltext not available.
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