NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
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DOI: 10.1002/acn3.50910
Abstract: CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of… read more here.
Keywords: capn3 roma; novel intronic; capn3; intronic capn3 ... See more keywords