title: Gene deletion in an Italian haemophilia B subject.
abstract: DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.
mesh_terms: D002872:Chromosome Deletion; D005164:Factor IX / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D009693:Nucleic Acid Hybridization; D010957:Plasmids
chemical_list: D005164:Factor IX