Reactome | Kazazian, HH

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created	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
dbId	5678876
displayName	Kazazian, HH
firstname	H H
initial	HH
publications	[LiteratureReference:9662705] Molecular etiology of factor VIII deficiency in hemophilia A [LiteratureReference:9662010] Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene [LiteratureReference:9669991] Hemophilia A due to mutations that create new N-glycosylation sites [LiteratureReference:9666384] Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A [LiteratureReference:9662324] The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII [LiteratureReference:9668183] Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine) [LiteratureReference:5678797] A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
schemaClass	Person
surname	Kazazian

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