Article
Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11.
The American journal of gastroenterology - 1 Jan 1999
Trojan J, Brieger A, Raedle J, Roth W K, Zeuzem S
Abstract excerpt
The Peutz-Jeghers syndrome, phenotypically characterized by mucocutaneous pigmentation and hamartomatous polyposis, is an autosomal dominant disease with variable expression and incomplete penetrance. Moreover, affected patients are at increased risk for gastrointestinal and other malignancies. R...
Topics
- Adult
- Codon, Terminator
- Exons
- Female
- Frameshift Mutation
- Germ-Line Mutation
- Humans
- Mutation
- Pedigree
- Peutz-Jeghers Syndrome
- Polymerase Chain Reaction
- Protein Serine-Threonine Kinases
- Sequence Analysis, DNA