Molecular characterization of factor X deficiency associated with borderline plasma factor X level.
Borderline plasma factor X (FX) levels might complicate the diagnosis of FX deficiency. An asymptomatic individual with 73% FX activity was identified to be heterozygous for the Val342Ala mutation. Expression studies suggested that this substitution is responsible for a CRM+ FX variant with normal activation but modestly reduced catalytic function.
Pinotti
Mirko
M
Monti
Monia
M
Baroni
Marcello
M
Marchetti
Giovanna
G
Bernardi
Francesco
F
D005170:Factor X / Q000032:analysis / Q000378:metabolism; D005171:Factor X Deficiency / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense
D005170:Factor X