A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling<i>CrebA</i>knockout mouse

Human Mutation - Tập 33 Số 4 - Trang 651-654 - 2012
Sohei Kitazawa1,2, Takeshi Kondo1, Kiyoshi Mori1, Naoki Yokoyama3, Masafumi Matsuo3, Riko Kitazawa1,2
1Division of Diagnostic Molecular Pathology, Kobe University Graduate School of Medicine, Kobe, Japan
2Division of Molecular Pathology, Ehime University Graduate School of Medicine, Toon, Ehime, Japan
3Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan

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