Molecular characterization of factor X deficiency associated with borderline plasma factor X level.

Article Details

Citation

Pinotti M, Monti M, Baroni M, Marchetti G, Bernardi F

Molecular characterization of factor X deficiency associated with borderline plasma factor X level.

Haematologica. 2004 Apr;89(4):501-2.

PubMed ID
15075089 [ View in PubMed
]
Abstract

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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Coagulation factor XP00742Details