Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond-Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu-Dramard, Michèle; Oldenburg, Johannes; Bourges-Petit, Elisabeth; Shen, Yuequan; Zerres, Klaus; Ouadid-Ahidouch, Halima; Rochette, Jacques

期刊名称Human Mutation
作者Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond-Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu-Dramard, Michèle; Oldenburg, Johannes; Bourges-Petit, Elisabeth; Shen, Yuequan; Zerres, Klaus; Ouadid-Ahidouch, Halima; Rochette, Jacques
卷第35卷
期第10期
印刷ISSN1059-7794
文件大小1634.78KB
发表时间2014-10
DOI10.1002/humu.22621
页码1221-1232

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Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome