A splice donor mutation in NAA10 results in the...

Journal of Medical Genetics 2014 / 03 Vol. 51; Iss. 3

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A., Chadwick, R. B., Sequeira, A., Vawter, M. P., Sun, G., Johnston, J. J.,
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Volume:
51
Language:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2013-101660
Date:
March, 2014
File:
PDF, 10.00 MB
english, 2014
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