000 01808 a2200589 4500
005 20250513101711.0
264 0 _c19961112
008 199611s 0 0 eng d
022 _a1061-4036
024 7 _a10.1038/ng1096-141
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aWhitcomb, D C
245 0 0 _aHereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
_h[electronic resource]
260 _bNature genetics
_cOct 1996
300 _a141-5 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 0 4 _aArginine
_xphysiology
650 0 4 _aChromosomes, Human, Pair 7
650 0 4 _aDNA Mutational Analysis
650 0 4 _aEnzyme Activation
650 0 4 _aExons
_xgenetics
650 0 4 _aFemale
650 0 4 _aGenes
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aModels, Molecular
650 0 4 _aPancreatitis
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aPolymorphism, Restriction Fragment Length
650 0 4 _aProtein Conformation
650 0 4 _aProtein Structure, Tertiary
650 0 4 _aTrypsin
_xmetabolism
650 0 4 _aTrypsinogen
_xchemistry
700 1 _aGorry, M C
700 1 _aPreston, R A
700 1 _aFurey, W
700 1 _aSossenheimer, M J
700 1 _aUlrich, C D
700 1 _aMartin, S P
700 1 _aGates, L K
700 1 _aAmann, S T
700 1 _aToskes, P P
700 1 _aLiddle, R
700 1 _aMcGrath, K
700 1 _aUomo, G
700 1 _aPost, J C
700 1 _aEhrlich, G D
773 0 _tNature genetics
_gvol. 14
_gno. 2
_gp. 141-5
856 4 0 _uhttps://doi.org/10.1038/ng1096-141
_zAvailable from publisher's website
999 _c8835369
_d8835369