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. 2012 Mar 14;20(9):933–937. doi: 10.1038/ejhg.2012.36

Figure 4.

Figure 4

A schematic model for lamin A and progerin splicing. Four mutations in LMNA leading to the usage of the identical cryptic splice site, resulting in a truncated, farnesylated protein. The mutation c.1821G>A leading to the neonatal progeroid phenotype in patient N is tagged in red.