DNA sequences were determined for both strands of sup-18 exons and intron/exon boundaries of each mutant. For splice-junction mutants, the intron sequence is indicated by lowercase and the exon sequen
Background: Musculocontractural Ehlers–Danlos syndrome (mcEDS) is a rare heritable connective tissue disease with various symptoms. The diagnosis of mcEDS is difficult because of the large overlap of
The Office of Cancer Genomics at the National Cancer Institute sponsored a series of studies as part of the Cancer Genome Characterization Initiative (CGCI) to assess novel emerging sequencing technol
