A Tyr346 → Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy

British Journal of Haematology

Volumn 118, Issue 2, 2002, Pages 589-594

  Mumford, Andrew D ^a   Laffan, Michael ^b   O'Donnell, James ^b   McVey, John H ^a   Johnson, Daniel J D ^a   Manning, Richard A ^b   Kemball Cook, Geoffrey ^a,b  

^a MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Assay discrepancy; Factor VIII; Factor VIII activation; FVIIIa inactivation; Interdomain acidic region a1

Indexed keywords

BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 8; CYSTEINE; THREONINE; THROMBIN; BLOOD CLOTTING FACTOR 8A;

AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; HEMOPHILIA A; HUMAN; MALE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PURIFICATION; PROTEIN STRUCTURE; WESTERN BLOTTING; WILD TYPE; CHEMISTRY; GENETICS; MUTATION; PROTEIN TERTIARY STRUCTURE;

AGED; AMINO ACID SUBSTITUTION; BLOTTING, WESTERN; FACTOR VIII; FACTOR VIIIA; HEMOPHILIA A; HUMANS; MALE; MUTATION; PARTIAL THROMBOPLASTIN TIME; PROTEIN STRUCTURE, TERTIARY;

EID: 0035982216     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2002.03617.x     Document Type: Article

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