Query author contributions in Reactome

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Details on Person Antonarakis, S E

Class:Id	Person:5678841
_displayName	Antonarakis, S E
_timestamp	2015-02-26 18:21:28
created	[InstanceEdit:5678752] Jassal, Bijay, 2015-02-26
firstname	S E
initial	SE
surname	Antonarakis
(author)	[LiteratureReference:5678797] A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein [LiteratureReference:9644408] Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP [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:9662705] Molecular etiology of factor VIII deficiency in hemophilia A [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:9668183] Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine) [LiteratureReference:9669991] Hemophilia A due to mutations that create new N-glycosylation sites [LiteratureReference:9708444] Isolation of the human BACH1 transcription regulator gene, which maps to chromosome 21q22.1
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No pathways have been reviewed or authored by Antonarakis, S E (5678841)