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12期
- 印刷ISSN1059-7794
- 文件大小84.07KB
- 发表时间2014-12
- DOI10.1002/humu.22722
- 页码1542-1542