Article
Mouse imprinting defect mutations that model Angelman syndrome.
Genesis (New York, N.Y. : 2000) - 1 Jan 2006
Wu Mei-Yi, Chen Ken-Shiung, Bressler Jan, Hou Aihua, Tsai Ting-Fen, Beaudet Arthur L
Abstract excerpt
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders resulting from deficiency of imprinted gene expression from paternal or maternal chromosome 15q11-15q13, respectively. In humans, expression of the imprinted genes is under control of a bipartite cis-acting imprinting center (IC). Families with deletions causing PWS imprinting defects localize the PWS-IC to 4.3 kb overlapping...
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