Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

✍ Scribed by Menezes, Manoj P.; Waddell, Leigh; Lenk, Guy M.; Kaur, Simranpreet; MacArthur, Daniel G.; Meisler, Miriam H.; Clarke, Nigel F.

• Book ID: 122269928
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 570 KB
• Volume: 24
• Category: Article
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2014.04.010