Repeat expansion disease: progress and puzzles in disease pathogenesis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg2748.pdf
Reference138 articles.
1. La Spada, A. R., Wilson, E. M., Lubahn, D. B., Harding, A. E. & Fischbeck, K. H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991).
2. Verkerk, A. J. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905–914 (1991).
3. Ashley, C. T. et al. Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat. Nature Genet. 4, 244–251 (1993).
4. Bell, M. V. et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 64, 861–866 (1991).
5. Heitz, D. et al. Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science 251, 1236–1239 (1991).
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