Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure

• Rumiko Izumi

• Tetsuya Niihori

• Yoko Aoki

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 58 (5), 259-266, 2013-05

  Tokyo : Springer Nature

キーワード

• A-band
• cytoplasmic body
• Fn3 domain
• hereditary myopathy with early respiratory failure
• HMERF
• myofibrillar myopathy
• titin
• TTN

詳細情報

• CRID: 1520291855575979392
• NII論文ID: 10031177220
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 024521860
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024521860
• Web Site: https://search.jamas.or.jp/link/ui/2014058863
• 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