Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly splice exons in myotonic dystrophy

• Yoshihiro Yamashita

• Tohru Matsuura

• Jun Shinmi

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 57 (6), 368-374, 2012-06

  Tokyo : Springer Nature

キーワード

• CUGBP1
• Exon array
• MBNL1
• myotonic dystrophy

詳細情報

• CRID: 1520573330145057280
• NII論文ID: 10030808044
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 023753407
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I023753407
• Web Site: https://search.jamas.or.jp/link/ui/2013173696
• 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