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AS UBE3A Mutation

Page history last edited by Derrick Roach 14 years, 5 months ago

UBE3A Mutation (11% of AS individuals)

 

 

               The UBE3A gene located inside the 15q11-13 region seems to contain all the genetic mechanisms that lead to AS.  UBE3A is dubbed the “critical gene” responsible for AS, but its particular purpose is unknown.[1]

 

 http://www.cureangelman.org/images/15.jpg[2]Imprinting Inheritance[3]

 

 

 

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Footnotes

  1. Roggenbuck, Jennifer Ann, MS, CGC. "Angelman syndrome." Gale Encyclopedia of Genetic Disorders. Ed. Brigham Narins. Online. Detroit: Thomson Gale, 2008. Science Resource Center. Gale. 26 October 2009 ▲
  2. Genetics 101. Web. 1 Nov 2009. . ▲
  3. UBE3A and Imprinting. Web. 2 Nov 2009. . ▲

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