Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.
Haematologica
; 92(8): 1151-2, 2007 Aug.
Article
en En
| MEDLINE
| ID: mdl-17650452
Fibrinogen is an essential component of the coagulation cascade and the acute phase response. The native 340 kDa molecule has a symmetrical trinodular structure composed of a central E-domain connected to outer D-domains by triple helical coiled-coils.1 Several mutations known to cause hypofibrinogenemia occur within the C-terminal gammaD-domain and have helped to elucidate the structurally and functionally important areas of this domain.2-5 Here we report the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and co-segregating with three genetic thrombophilia risk factors.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fibrinógenos Anormales
/
Mutación Puntual
/
Trombofilia
/
Sustitución de Aminoácidos
/
Resistencia a la Proteína C Activada
/
Mutación Missense
/
Afibrinogenemia
/
Metilenotetrahidrofolato Reductasa (NADPH2)
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Haematologica
Año:
2007
Tipo del documento:
Article
Pais de publicación:
Italia