000 01722 a2200517 4500
005 20250515011152.0
264 0 _c20060516
008 200605s 0 0 eng d
022 _a0017-5749
024 7 _a10.1136/gut.2005.067959
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aKhalid, A
245 0 0 _aA 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance.
_h[electronic resource]
260 _bGut
_cMay 2006
300 _a728-31 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
650 0 4 _aAged, 80 and over
650 0 4 _aAlleles
650 0 4 _aBase Sequence
650 0 4 _aCarrier Proteins
_xgenetics
650 0 4 _aCase-Control Studies
650 0 4 _aDNA, Complementary
_xanalysis
650 0 4 _aExons
650 0 4 _aGene Expression
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aPancreas
_xmetabolism
650 0 4 _aPancreatitis
_xgenetics
650 0 4 _aPenetrance
650 0 4 _aPolymerase Chain Reaction
_xmethods
650 0 4 _aReverse Transcriptase Polymerase Chain Reaction
650 0 4 _aTrypsin
_xmetabolism
650 0 4 _aTrypsin Inhibitor, Kazal Pancreatic
650 0 4 _aTrypsinogen
_xgenetics
700 1 _aFinkelstein, S
700 1 _aThompson, B
700 1 _aKelly, L
700 1 _aHanck, C
700 1 _aGodfrey, T E
700 1 _aWhitcomb, D C
773 0 _tGut
_gvol. 55
_gno. 5
_gp. 728-31
856 4 0 _uhttps://doi.org/10.1136/gut.2005.067959
_zAvailable from publisher's website
999 _c15975164
_d15975164