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. 2013 Mar 26;4(4):157–164. doi: 10.1159/000348675

Fig. 2.

Fig. 2

GLMN mutations. A Gene with shared mutations (top) and private ones (below). Red = Direct stop codon; black = frameshift leading to premature truncation; green = splice-site alteration; purple = deletion of asparagine 393. B Frequency of mutations in 162 families. Private mutations only identified in one index case or family. C Proportion of the different mutations.