Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Alternative label

• Lunghi, B. (2); Redaelli, R. (3); Caimi, M. (3) Corno, A.R. (1); Bernardi, F. (2); Marchetti, G. (2) (2011)
  Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors
  in Haemophilia (Oxf., Print); Blackwell Publishing, Oxford (Regno Unito)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Lunghi, B. (2); Redaelli, R. (3); Caimi, M. (3) Corno, A.R. (1); Bernardi, F. (2); Marchetti, G. (2) (literal)

Pagina inizio

• 1 (literal)

Pagina fine

• 2 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• ID_PUMA: cnr.ifc/2011-A0-098 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 1 (literal)

Rivista

• Haemophilia (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• (1) CNR-IFC, Milano; (2) Department of Biochemistry and Molecular Biology, University of Ferrara, Ferrara, Italy; (3) Ospedale Niguarda Cà Granda, Milano, Italy (literal)

Titolo

• Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors (literal)

Abstract

• Hereditary combined deficiency of vitamin K-dependent clotting factors (VKCFD) is a rare autosomal recessive bleeding disorder [1]associated with defects in either the c-glutamyl carboxylase (GGCX, VKCFD type I) or the vitamin K epoxide reductase (VKORC1,VKCFD type II), which regenerates the reduced form of the cofactor vitamin K. Several mutations in GGCX have been reported whereas to date, only one has been identified in VKORC1. A case report study. (literal)

Editore

• Blackwell Publishing (Editore)

Prodotto di

• Istituto di fisiologia clinica (IFC) (Istituto)

Autore CNR

• Anna Rosa Corno (Persona)

Insieme di parole chiave

• Parole chiave di "Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors" (Insieme di parole chiave)

Incoming links:

Prodotto

• Istituto di fisiologia clinica (IFC) (Istituto)

Autore CNR di

• Anna Rosa Corno (Persona)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Haemophilia (Rivista)

Editore di

• Blackwell Publishing (Editore)

Insieme di parole chiave di

• Parole chiave di "Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors" (Insieme di parole chiave)