A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease

✍ Scribed by Shimojima, Keiko; Tanaka, Ryuta; Shimada, Shino; Sangu, Noriko; Nakayama, Junko; Iwasaki, Nobuaki; Yamamoto, Toshiyuki

• Book ID: 121525777
• Publisher: Elsevier Science
• Year: 2013
• Tongue: English
• Weight: 543 KB
• Volume: 330
• Category: Article
• ISSN: 0022-510X
• DOI: 10.1016/j.jns.2013.04.017