Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

• Mariko Taniguchi-Ikeda

• Yasuhiro Takeshima

• Tomoko Lee

• Masahiro Nishiyama

• Hiroyuki Awano

• Mariko Yagi

• Ai Unzaki

• Kandai Nozu

• Hisahide Nishio

• Masafumi Matsuo

• Hiroki Kurahashi

• Tatsushi Toda

• Ichiro Morioka

• Kazumoto Iijima

Journal

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 61 (4), 351-355, 2016-04

  Tokyo : Springer Nature

Details

• CRID: 1522543655205848192
• NII Article ID: 40020802923
• NII Book ID: AA11206160
• ISSN: 14345161
• NDL BIB ID: 027252548
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I027252548
• Web Site: https://search.jamas.or.jp/link/ui/2016381561
• Text Lang: en
• NDL Source Classification:
  • ZS16(科学技術--医学--人類遺伝学)
• Data Source:
  • NDL
  • CiNii Articles