Khalid, A

A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance. [electronic resource] - Gut May 2006 - 728-31 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

0017-5749

10.1136/gut.2005.067959 doi


Aged, 80 and over
Alleles
Base Sequence
Carrier Proteins--genetics
Case-Control Studies
DNA, Complementary--analysis
Exons
Gene Expression
Genetic Predisposition to Disease--genetics
Humans
Male
Molecular Sequence Data
Mutation
Pancreas--metabolism
Pancreatitis--genetics
Penetrance
Polymerase Chain Reaction--methods
Reverse Transcriptase Polymerase Chain Reaction
Trypsin--metabolism
Trypsin Inhibitor, Kazal Pancreatic
Trypsinogen--genetics