A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

• Raffaella Brugnoni

• Dimos Kapetis

• Paola Imbrici

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), 581-587, 2013-09

  Tokyo : Springer Nature

キーワード

• CLCN1 gene
• genetic screening
• myotonia congenita
• skeletal muscle voltage-gated chloride channel (ClC-1)

詳細情報

• CRID: 1521417753485160064
• NII論文ID: 10031195293
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 024854534
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I024854534
• Web Site: https://search.jamas.or.jp/link/ui/2014146761
• 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