An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-23856-8.pdf
Reference31 articles.
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2. Lopez-Bigaz, N., Audit, B., Ouzounis, C., Parra, G. & Guigo, R. Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett 579, 1900–1903 (2005).
3. Bartels, C. F., Scacheri, C., White, L., Scacheri, P. C. & Bale, S. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers 14, 881–891 (2010).
4. Kim, H.-G. et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83, 511–519 (2008).
5. Jongmans, M. C. J. et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Journal of Medical Genetics 43, 306–314 (2006).
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