Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain

Haemophilia

Volumn 12, Issue 6, 2006, Pages 621-624

  Todd, Tony ^a,b   Perry, D J ^a   Hayman, E ^a   Lawrence, K ^a   Gattens, M ^a   Baglin, T ^a  

^a ADDENBROOKE S HOSPITAL   (United Kingdom)

^b NONE

Author keywords

Factor X Deficiency; Mutation; Prophylaxis; Prothrombin Complex Concentrate

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 10; CYSTEINE; DEFIX; PROTHROMBIN COMPLEX;

ANAMNESIS; ARTICLE; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BRAIN HEMORRHAGE; CASE REPORT; DISEASE SEVERITY; DISULFIDE BOND; ENZYME ACTIVE SITE; HOMOZYGOSITY; HUMAN; IRAN; MISSENSE MUTATION; NEUROLOGIC DISEASE; PARTIAL THROMBOPLASTIN TIME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME;

ADOLESCENT; ADULT; BLOOD COAGULATION FACTORS; CATALYTIC DOMAIN; CHILD, PRESCHOOL; FACTOR X DEFICIENCY; HEMORRHAGE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION;

EID: 33750710455     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01315.x     Document Type: Article

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