Activating mutations in STIM1 and ORAI1 cause overlapping...

Proceedings of the National Academy of Sciences 2014 / 03 Vol. 111; Iss. 11

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Nesin, V., Wiley, G., Kousi, M., Ong, E.-C., Lehmann, T., Nicholl, D. J., Suri, M., Shahrizaila, N., Katsanis, N., Gaffney, P. M., Wierenga, K. J., Tsiokas, L.
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Volume:
111
Language:
english
Journal:
Proceedings of the National Academy of Sciences
DOI:
10.1073/pnas.1312520111
Date:
March, 2014
File:
PDF, 1.29 MB
english, 2014
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