De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0156-9.pdf
Reference46 articles.
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2. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell. 1992;68:799–808.
3. Mahadevan MS, Amemiya C, Jansen G, et al. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet. 1993;2:299–304.
4. Fu YH, Pizzuti A, Fenwick RG Jr., et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255:1256–8.
5. Jaspert A, Fahsold R, Grehl H, Claus D. Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat. J Neurol. 1995;242:99–104.
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