Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0496-452.pdf
Reference19 articles.
1. Ledbetter, D.H. et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New Engl. J. Med. 304, 325–329 (1981).
2. Nicholls, R.D. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am. J. Med. Genet. 46, 16–25 (1993).
3. Knoll, J.H.M. & Nicholls, R.D. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet. 32, 285–290 (1989).
4. Dittrich, B. et al. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific methylation in 15q11–13. Hum. Genet. 90, 313–315 (1992).
5. Buiting, K. et al. Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum. Molec. Genet. 2, 1991–1994 (1993).
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