A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
Figure 2
Primary localized cutaneous amyloidosis. (a) The chromatogram shows the single nucleotide mutation in patient with Macular amyloidosis. The C/T substitution in exon 12 of OSMR gene causing L613S (leucine 613 to serine) amino acid transition was observed in all affected family members and was absent in normal controls. (b) Gel electophoresis [M = marker U = undigested, test control P = proband, digested C = control, normal individual].
