Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB : application of simulation analysis

• Naoko Yasui

• Yutaka Takaoka

• Hisahide Nishio

Journal

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (9), 611-617, 2013-09

  Tokyo : Springer Nature

Keywords

• β-hexosaminidase
• GM2 gangliosidosis
• HEXB
• molecular simulation analysis
• p.Arg505Gln
• p.Ser341ValfsX30
• Sandhoff disease

Details

• CRID: 1523106605391488256
• NII Article ID: 10031195298
• NII Book ID: AA11206160
• ISSN: 14345161
• NDL BIB ID: 024854615
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024854615
• Web Site: https://search.jamas.or.jp/link/ui/2014146766
• Text Lang: en
• NDL Source Classification:
  • ZS16(科学技術--医学--人類遺伝学)
• Data Source:
  • NDL
  • CiNii Articles