A common and two novel GBA mutations in Thai patients with Gaucher disease

• Rachaneekorn Tammachote

• Siraprapa Tongkobpetch

• Chalurmpon Srichomthong

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (9), 594-599, 2013-09

  Tokyo : Springer Nature

キーワード

• Gaucher disease
• GBA
• mutation spectrum
• termination codon mutation

詳細情報

• CRID: 1520291855537142144
• NII論文ID: 10031195295
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 024854569
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024854569
• Web Site: https://search.jamas.or.jp/link/ui/2014146763
• 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