Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
Factor XI (FXI) deficiency is a rare coagulation disorder associated with bleeding of variable severity but without a clear relationship between bleeding and FXI levels. This study reports the molecular genetic analysis of FXI deficiencies in thirteen patients. Six novel missense mutations were identified: P23L, P69T, C92G, E243D, W497C and E547K.
Quélin
Florence
F
François
Dominique
D
d'Oiron
Roseline
R
Guillet
Benoît
B
de Raucourt
Emmanuelle
E
de Mazancourt
Philippe
P
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D005006:Ethnicity; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D020125:Mutation, Missense
D005172:Factor XI