An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

✍ Scribed by Shino Shimada; Kazushi Miya; Nozomi Oda; Yuki Watanabe; Tomohiro Kumada; Midori Sugawara; Keiko Shimojima; Toshiyuki Yamamoto

• Book ID: 111995253
• Publisher: John Wiley and Sons
• Year: 2012
• Tongue: English
• Weight: 596 KB
• Volume: 158A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.35431