| http://www.w3.org/ns/prov#value | - These mutations are mainly missense and frameshiftmutations in exons 13 and 14, affecting the p63a-specific sterilealpha motive (SAM) and transactivation inhibitory (TI) domains.Although,AECandRHSsyndromeshavealwaysbeenlinkedtothea-tail of the p63 gene, we have recently discovered three novelmutations in the 50end of the p63 gene [Rinneet al., 2008].Two ofthese novel mutations only affect the DNp6
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