Intragenic duplication: a novel mutational mechanism in ...
Simon et al. (2002) found a de novo p.R122H mutation in their cohort and their subsequent studies indicated that PRSS1 mutations are characteristically not inherited from a common founder, even when local clustering of families is observed [35, 36]. Intragenic duplications are likely to result in a frame shift and truncated, non-functional protein.
DA: 48 PA: 79 MOZ Rank: 4