LABORATORY INVESTIGATION : A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis

• Takahide Suzuki

• Takuro Fujimaki

• Ai Yamagawa

収録刊行物

• Japanese journal of ophthalmology : the official international journal of the Japanese Ophthalmological Society / Japanese Ophthalmological Society

  Japanese journal of ophthalmology : the official international journal of the Japanese Ophthalmological Society / Japanese Ophthalmological Society 58 (6), 528-535, 2014

  [Tokyo] : Springer

キーワード

• RPGRIP1
• Leber congenital amaurosis
• Deletion
• Mutation

詳細情報

• CRID: 1521980705378131072
• NII論文ID: 40020268760
• NII書誌ID: AA00691177
• ISSN: 00215155
• ISSN: 16132246
• DOI: 10.1007/s10384-014-0339-z
• NDL書誌ID: 025920776
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I025920776
• Web Site: http://link.springer.com/content/pdf/10.1007/s10384-014-0339-z.pdf
• Web Site: http://link.springer.com/article/10.1007/s10384-014-0339-z/fulltext.html
• Web Site: http://link.springer.com/content/pdf/10.1007/s10384-014-0339-z
• Web Site: https://search.jamas.or.jp/link/ui/2015325470
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS42(科学技術--医学--眼科学)
• データソース種別:
  • NDL
  • Crossref
  • CiNii Articles
  • KAKEN