Mouse imprinting defect mutations that model Angelman syndrome.

  title={Mouse imprinting defect mutations that model Angelman syndrome.},
  author={Mei-Yi Wu and K Chen and Jan Bressler and Aihua Hou and T. -C. Tsai and Arthur L Beaudet},
  volume={44 1},
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 with SNRPN exon 1. Families with deletions causing AS imprinting defects localize the… CONTINUE READING
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Proceedings of the National Academy of Sciences of the United States of America • 2015
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