Reactome | Tuddenham, EG

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Tuddenham, EG Show undefined attributes

created	[InstanceEdit:9661631] Shamovsky, Veronica, 2019-09-18
dbId	9661582
displayName	Tuddenham, EG
firstname	E G
initial	EG
publications	[LiteratureReference:9666401] Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A [LiteratureReference:9671812] An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B [LiteratureReference:9662705] Molecular etiology of factor VIII deficiency in hemophilia A [LiteratureReference:9667111] Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A [LiteratureReference:9661601] Distribution of factor VIII mRNA and antigen in human liver and other tissues [LiteratureReference:9670003] A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin [LiteratureReference:9661977] Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r)) [LiteratureReference:9667108] CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site [LiteratureReference:9667112] Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A [LiteratureReference:9661667] Expression of active human factor VIII from recombinant DNA clones
schemaClass	Person
surname	Tuddenham

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