Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-38898-9.pdf
Reference47 articles.
1. Northrup, H., Wheless, J. W., Bertin, T. K. & Lewis, R. A. Variability of expression in tuberous sclerosis. Journal of medical genetics 30, 41–43 (1993).
2. Dabora, S. L. et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. American journal of human genetics 68, 64–80, https://doi.org/10.1086/316951 (2001).
3. Kingswood, J. C. et al. TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Orphanet journal of rare diseases 9, 182, https://doi.org/10.1186/s13023-014-0182-9 (2014).
4. Curatolo, P., Bombardieri, R. & Jozwiak, S. Tuberous sclerosis. Lancet (London, England) 372, 657–668, https://doi.org/10.1016/s0140-6736(08)61279-9 (2008).
5. Curatolo, P. & Maria, B. L. Tuberous sclerosis. Handbook of clinical neurology 111, 323–331, https://doi.org/10.1016/b978-0-444-52891-9.00038-5 (2013).
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