Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Calmels, N., Botta, E., Jia, N., Fawcett, H., Nardo, T., Nakazawa, Y., Lanzafame, M., Moriwaki, S., Sugita, K., Kubota, M., Obringer, C., Spitz, M.-A., Stefanini, M., Laugel, V., Orioli, D., Ogi, T., Lehmann, A. R.
BMJ Publishing Group
Published 2018