Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome : pathological mutations and polymorphisms

• FUKUDA Takayuki

  Department of Medical Genetics, Ehime University School of Medicine

• YAMASHITA Yushiro

  Department of Pediatrics and Child Health, Kurume University School of Medicine

• NAGAMITSU Shinichiro

  Department of Pediatrics and Child Health, Kurume University School of Medicine

• MIYAMOTO Kenichi

  Department of Medical Genetics, Ehime University School of Medicine

• JIN Jing-Ji

  Department of Geriatric Medicine, Ehime University School of Medicine

• OHMORI Iori

  Department of Child Neurology, Okayama University Graduate School of Medicine and Dentistry

• OHTSUKA Yoko

  Department of Child Neurology, Okayama University Graduate School of Medicine and Dentistry

• KUWAJIMA Katsuko

  Department of Pediatrics, Ibaraki Prefectural Handicapped Children's Center

• ENDO Shoichi

  Department of Pediatrics, Kagawa Children's Hospital

• IWAI Tsuyako

  Department of Pediatrics, Kagawa Children's Hospital

• YAMAGATA Hidehisa

  Department of Medical Genetics, Ehime University School of Medicine

• TABARA Yasuharu

  Department of Medical Genetics, Ehime University School of Medicine

• MIKI Tetsuro

  Department of Geriatric Medicine, Ehime University School of Medicine

• MATSUISHI Toyojiro

  Department of Pediatrics and Child Health, Kurume University School of Medicine

• KONDO Ikuko

  Department of Medical Genetics, Ehime University School of Medicine

収録刊行物

• Brain & development

  Brain & development 27 (3), 211-217, 2005-03-18

キーワード

• Rett syndrome (RTT)
• Methyl-CpG-binding protein 2 gene (MECP2)
• Single nucleotide polymorphism (SNP)
• X-inactivation

詳細情報

• CRID: 1570854175179417216
• NII論文ID: 10015453744
• NII書誌ID: AA00111153
• ISSN: 03877604
• Web Site: https://search.jamas.or.jp/link/ui/2006193652
• 本文言語コード: en
• データソース種別:
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