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UBE3A/E6-AP mutations cause Angelman syndrome.
Kishino T, Lalande M, Wagstaff J. Kishino T, et al. Among authors: wagstaff j. Nat Genet. 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70. Nat Genet. 1997. PMID: 8988171
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Malzac P, et al. Among authors: wagstaff j. Am J Hum Genet. 1998 Jun;62(6):1353-60. doi: 10.1086/301877. Am J Hum Genet. 1998. PMID: 9585605 Free PMC article.
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Williams CA, et al. Among authors: wagstaff j. Am J Med Genet. 1995 Mar 27;56(2):237-8. doi: 10.1002/ajmg.1320560224. Am J Med Genet. 1995. PMID: 7625452 No abstract available.
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