Identified Mutation |
ARG155HIS; In 7 of 13 families with autosomal dominant IBMPFD (167320), Watts et al. (Nature Genet 36:377-381, 2004) identified a G-to-A transition at nucleotide 464 of the VCP gene, resulting in an arg155-to-his substitution (R155H). This mutation appears to have arisen independently on several haplotype backgrounds.
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