000 01685 a2200433 4500
005 20250513050533.0
264 0 _c19950413
008 199504s 0 0 eng d
022 _a0021-9738
024 7 _a10.1172/JCI117780
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aZahedi, R
245 0 0 _aUnique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
_h[electronic resource]
260 _bThe Journal of clinical investigation
_cMar 1995
300 _a1299-305 p.
_bdigital
500 _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aAngioedema
_xclassification
650 0 4 _aBase Sequence
650 0 4 _aComplement C1 Inactivator Proteins
_xgenetics
650 0 4 _aEndopeptidases
_xmetabolism
650 0 4 _aGenes, Dominant
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aLupus Erythematosus, Systemic
_xcomplications
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutagenesis, Site-Directed
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
650 0 4 _aProtein Binding
650 0 4 _aProtein Denaturation
650 0 4 _aSequence Analysis, DNA
650 0 4 _aTrypsin
_xmetabolism
700 1 _aBissler, J J
700 1 _aDavis, A E
700 1 _aAndreadis, C
700 1 _aWisnieski, J J
773 0 _tThe Journal of clinical investigation
_gvol. 95
_gno. 3
_gp. 1299-305
856 4 0 _uhttps://doi.org/10.1172/JCI117780
_zAvailable from publisher's website
999 _c7883312
_d7883312