1. Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 
Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean-Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana J. Josifova 
The American Journal of Human Genetics 
Volume 86, Issue 3, Pages (March 2010)
DOI: /j.ajhg
Copyright © 2010 The American Society of Human Genetics Terms and Conditions

2. Figure 1 Multiple Alignment of C20orf54 Protein Sequence
The C20orf54 protein sequence with the six missense mutations (p.E36K, p.R132W, p.F224L, p.L350M, p.V413A, and p.F457L) is shown in eight orthologs. The mutations p.E36K and p.V413A are found in case 9 (Table 1), who is a compound heterozygote. The alignment was performed with ClustalW2, and the GenBank accession numbers are NP_ , XP_ , XP_ , XP_ , XP_ , NP_ , NP_ , and NP_
The American Journal of Human Genetics  , DOI: ( /j.ajhg )
Copyright © 2010 The American Society of Human Genetics Terms and Conditions