Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

• Charlotte A. Brown

• Juergen Scharner

• Kevin Felice

Bibliographic Information

Other Title

• Novel and recurrent EMD mutations in patients with Emery Dreifuss muscular dystrophy identify exon 2 as a mutation hot spot

Journal

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 56 (8), 589-594, 2011-08

  Tokyo : Springer Nature

Keywords

• EMD
• emerin
• Emery-Dreifuss muscular dystrophy
• X-EDMD

Details

• CRID: 1523388079567579136
• NII Article ID: 10030660496
• NII Book ID: AA11206160
• ISSN: 14345161
• NDL BIB ID: 11205058
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I11205058
• Web Site: https://search.jamas.or.jp/link/ui/2012169424
• Text Lang: en
• NDL Source Classification:
  • ZS16(科学技術--医学--人類遺伝学)
• Data Source:
  • NDL
  • CiNii Articles