Spinal Muscular Atrophy: New and Emerging Insights from Model Mice
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Neuroscience
Link
http://link.springer.com/content/pdf/10.1007/s11910-010-0095-5.pdf
Reference60 articles.
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2. Lefebvre S, Burglen L, Reboullet S, et al.: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155–165.
3. Monani UR, Lorson CL, Parsons DW, et al.: A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999, 8:1177–1183.
4. Cartegni L, Krainer AR: Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002, 30:377–384.
5. Kashima T, Manley JL: A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003, 34:460–463.
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