Splicing analysis of family B
RNA analysis was performed from blood of the proband drawn into
a PAXgene Blood RNA Tube, followed by RNA isolation and a reverse
transcriptase reaction followed by Sanger sequencing coveringJAG1 exons 16-18 (primers: F: GGCCTACTGTGAAACCAATATT,
R:TCATTGGTATTCTGAGCACAG).