title: A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency.
authors.affiliation: Department of Hematology, Chaim Sheba Medical Center, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Peretz
authors.forename: A
authors.initials: A
authors.lastname: Zivelin
authors.forename: S
authors.initials: S
authors.lastname: Usher
authors.forename: U
authors.initials: U
authors.lastname: Seligsohn
mesh_terms: D000328:Adult; D003062:Codon; D005091:Exons; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D012326:RNA Splicing / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D005172:Factor XI