Items for "mutational screening"

Mutational screening of six afibrinogenemic patients: Identification and characterization of four novel molecular defects

Congenital afibrinogenemia (CAF) is a rare coagulation disorder characterized by very low or unmeasurable levels of functional and immunoreactive fibrinogen in plasma, associated with a hemorrhagic phenotype of variable severity...

Keywords: fibrinogen, congenital afibrinogenemia, mutational screening, large deletion, point mutations