Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
Darin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; El Yacoubi, Basma; Footitt, Emma; Chong, W.K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crécy-Lagard, Valérie; Mills, Philippa B.; Clayton, Peter T.
- 期刊名称The American Journal of Human Genetics
- 作者Darin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; El Yacoubi, Basma; Footitt, Emma; Chong, W.K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crécy-Lagard, Valérie; Mills, Philippa B.; Clayton, Peter T.
- 卷第99卷
- 期第6期
- 印刷ISSN0002-9297
- 文件大小1290.80KB
- 发表时间2016-12
- DOI10.1016/j.ajhg.2016.10.011
- 页码1325-1337