A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance. [electronic resource]
Producer: 20060516Description: 728-31 p. digitalISSN:- 0017-5749
- 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
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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