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. 2013 Oct 9;22(6):768–775. doi: 10.1038/ejhg.2013.232

Figure 3.

Figure 3

Analysis of myosin XVA mutations. (a) Pedigree and segregation analysis of Family BA. (b) Partial sequence of MYO15A from an affected proband BA-II-1 demonstrating the compound heterozygote mutation c.1223C>T, p.Ala408Val, which appeared with the known p.Glu1414Lys mutation. (c) Pedigree and segregation analysis of Family 1234. (d) Partial sequences of MYO15A from an affected proband 1234-II-1 demonstrating the mutation c.8467G>A, p.Asp2823Asn. (e) Schematic representation of the myosin XVA protein shows the location of the p.Ala408Val, p.Glu1414Lys and p.Asp2823Asn mutations.