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.
Peretz
H
H
Department of Hematology, Chaim Sheba Medical Center, Israel.
Zivelin
A
A
Usher
S
S
Seligsohn
U
U
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
D003062:Codon; D005172:Factor XI