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