Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

✍ Scribed by Finnis, Merran; Gecz, Jozef; Morton, Jenny; Fullston, Tod; Brueton, Louise; Willis, Tracey; Philip, Sunny; MacPherson, Lesley

• Book ID: 109848999
• Publisher: Nature Publishing Group
• Year: 2009
• Tongue: English
• Weight: 525 KB
• Volume: 18
• Category: Article
• ISSN: 1018-4813
• DOI: 10.1038/ejhg.2009.139