A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201516.pdf
Reference30 articles.
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3. Prior, T. W., Snyder, P. J., Rink, B. D., Pearl, D. K., Pyatt, R. E., Mihal, D. C. et al. Newborn and carrier screening for spinal muscular atrophy. Am. J. Med. Genet. A 152A, 1608–1616 (2010).
4. Kolb, S. J. & Kissel, J. T. Spinal muscular atrophy: a timely review. Arch. Neurol. 68, 979–984 (2011).
5. Zerres, K. & Davies, K. E. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul. Disord. 9, 272–278 (1999).
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