Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bε (eIF2Bε) identified in Chinese patients with vanishing white matter disease

• Xuerong Leng

• Ye Wu

• Xuemin Wang

書誌事項

タイトル別名

• Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Be eIF2Be identified in Chinese patients with vanishing white matter disease

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 56 (4), 300-305, 2011-04

  Tokyo : Springer Nature

キーワード

• Chinese
• childhood ataxia with central nervous system hypomyelination
• CACH
• eukaryotic translation initiation factor 2B
• eIF2B
• mutation
• vanishing white matter disease
• VWM

詳細情報

• CRID: 1521980705730436096
• NII論文ID: 10030658873
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 11045869
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I11045869
• Web Site: https://search.jamas.or.jp/link/ui/2012046198
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS16(科学技術--医学--人類遺伝学)
• データソース種別:
  • NDL
  • CiNii Articles