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Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
Authors:Yukiko Kuroda  Ikuko Ohashi  Toshiyuki Saito  Jun‐Ichi Nagai  Kazumi Ida  Takuya Naruto  Takahito Wada  Kenji Kurosawa
Affiliation:1. Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan;2. Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan;3. Division of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Japan
Abstract:
Keywords:Angelman syndrome  UBE3A deletion  familial cases  15q inversion  chromosomal rearrangement
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