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1
Q42164070-08FDE3ED-CB01-470B-948F-FC1499B7AD1D
Q42164070-08FDE3ED-CB01-470B-948F-FC1499B7AD1D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42164070-08FDE3ED-CB01-470B-948F-FC1499B7AD1D
Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation.
P2860
Q42164070-08FDE3ED-CB01-470B-948F-FC1499B7AD1D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42164070-08FDE3ED-CB01-470B-948F-FC1499B7AD1D
rank
NormalRank
type
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Statement
wasDerivedFrom
0a51efc657de847d810a61e3c95f2643d2d02fff
P2860
Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.