Localization of identified mutations in 5 unrelated Tunisian patients with FVII deficiency. The 3 punctual mutations are localized in the catalytic region within exon 8. The 2 splice mutations are localized in intron 1 and in the exon 2. Nucleotide numbers are based on the full sequence published by O’hara et al 1987 using the A of the ATG initiator methionine as +1. Numbering of the amino acids is based on Genebank file NM-000131. Methionine is numbered as −60.
Elmahmoudi et al. Diagnostic Pathology 2012 7:92 doi:10.1186/1746-1596-7-92