marked exon 2 skipping in these assays, but also yielded a large fraction of normal transcripts.
Cell transfection assays showed marked exon 2 skipping in these assays, but also yielded a large fraction of normal transcripts.
c.51+3A>G mutation cosegregates with low C1 inhibitor protein levels in one family. alternative splicing of exon 3, found in peripheral blood cell mRNA but not in the liver or in hepatoma cell lines and we show that, in cultured monocytes of a patient carrying the c.51+3A>G mutation, this alternative splicing is shifted from exon 3 exclusion to skipping of both exons 2 and 3
Variants: c.51+3A>G; c.51+5G>A
CAIDs: CA2579981804; error in CAR-unable to register