The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine

• Elham Jaberi

• Fereshteh Chitsazian

• Gholam Ali Shahidi

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (8), 526-530, 2013-08

  Tokyo : Springer Nature

キーワード

• encephalomyopathy
• methylmalonic acid
• mitochondrial DNA depletion
• p.Asp251Asn
• succinylcarnitine
• SUCLA2

詳細情報

• CRID: 1521417754795289472
• NII論文ID: 10031195282
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 024767054
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024767054
• Web Site: https://search.jamas.or.jp/link/ui/2014129306
• 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