De novo gain-of-function and loss-of-function mutations of...

Journal of Medical Genetics 2015 / 05 Vol. 52; Iss. 5

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Blanchard, M. G., Willemsen, M. H., Walker, J. B., Dib-Hajj, S. D., Waxman, S. G., Jongmans, M. C., Kleefstra, T., van de Warrenburg, B. P., Praamstra, P., Nicolai, J., Yntema, H. G., Bindels, R. J.,
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Volume:
52
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2014-102813
Date:
May, 2015
File:
PDF, 1.18 MB
english, 2015
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