000 01517 a2200481 4500
005 20250513101329.0
264 0 _c19961017
008 199610s 0 0 eng d
022 _a1059-7794
024 7 _a10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aIreland, H A
245 0 0 _aTwo novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
_h[electronic resource]
260 _bHuman mutation
_c1996
300 _a176-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdult
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
650 0 4 _aProtein C
_xanalysis
650 0 4 _aProtein C Deficiency
650 0 4 _aThrombophlebitis
_xgenetics
700 1 _aBoisclair, M D
700 1 _aTaylor, J
700 1 _aThompson, E
700 1 _aThein, S L
700 1 _aGirolami, A
700 1 _aDe Caterina, M
700 1 _aScopacasa, F
700 1 _aDe Stefano, V
700 1 _aLeone, G
700 1 _aFinazzi, G
700 1 _aCohen, H
700 1 _aLane, D A
773 0 _tHuman mutation
_gvol. 7
_gno. 2
_gp. 176-9
856 4 0 _uhttps://doi.org/10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#
_zAvailable from publisher's website
999 _c8823856
_d8823856