5′–AAAGCATTAGGTCTCATCCTTTAGTGCACG–3′) flanking exon 9, with the Expand Long PCR System. The clinical, pathological and etiological importance of Δ9 mutations has been discussed 1.

New exon-capture techniques will direct sequencing ... The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single ...