TY - JOUR
T1 - Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11
AU - Wistinghausen, Birte
AU - Reischer, Amy
AU - Oddoux, Carole
AU - Ostrer, Harry
AU - Nardi, Michael
AU - Karpatkin, Margaret
PY - 1997
Y1 - 1997
N2 - We investigated an 8-year-old Arab girl with severe factor XI deficiency; one sibling and her father also have severe factor XI deficiency. Her parents and her father's parents are first cousins. Restriction analysis and DNA sequencing excluded the type I, II, III and IV mutations. We demonstrated a previously undescribed C → A mutation at nucleotide 1254 in exon 11 resulting in a threonine to asparagine (T→N) substitution at amino acid 386. We postulate that this substitution interferes with folding and secretion of the molecule.
AB - We investigated an 8-year-old Arab girl with severe factor XI deficiency; one sibling and her father also have severe factor XI deficiency. Her parents and her father's parents are first cousins. Restriction analysis and DNA sequencing excluded the type I, II, III and IV mutations. We demonstrated a previously undescribed C → A mutation at nucleotide 1254 in exon 11 resulting in a threonine to asparagine (T→N) substitution at amino acid 386. We postulate that this substitution interferes with folding and secretion of the molecule.
KW - DNA mutational analysis
KW - Factor XI deficiency
KW - Non-Jewish
UR - http://www.scopus.com/inward/record.url?scp=0030703535&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2141.1997.4343244.x
DO - 10.1046/j.1365-2141.1997.4343244.x
M3 - Article
C2 - 9401068
AN - SCOPUS:0030703535
SN - 0007-1048
VL - 99
SP - 575
EP - 577
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 3
ER -