Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency

Thrombosis and Haemostasis

Volumn 89, Issue 2, 2003, Pages 243-248

  Pinnoti, Mirko ^a   Camire, Rodney M ^b   Baroni, Marcello ^a   Rajab, Anna ^c   Marchetti, Giovanna ^a   Bernardi, Francesco ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c ROYAL HOSPITAL   (Oman)

Author keywords

CRM+ FX deficiency; FX activity; Hemorrhagic phenotype; Recombinant FX

Indexed keywords

ASPARTIC ACID; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10A; GLYCINE; PROTHROMBIN; SERINE PROTEINASE;

ARTICLE; BLEEDING; BLOOD CLOTTING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CROSS REACTION; DISEASE SEVERITY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME ASSAY; FAMILIAL DISEASE; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; OMAN; PHENOTYPE; PRIORITY JOURNAL; PROTHROMBIN TIME; SYMPTOMATOLOGY;

EID: 0037330004     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613438     Document Type: Article

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