Article
Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.
American journal of human genetics - 1 Dec 1998
Mehenni H, Gehrig C, Nezu J, Oku A, Shimane M, Rossier C, Guex N, Blouin J L, Scott H S, Antonarakis S E
Abstract excerpt
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps. There is an increased risk of benign and malignant tumors in the gastrointestinal tract and in extraintestinal tissues. One PJS locus has been mapped to chromosome 1...
Topics
- AMP-Activated Protein Kinase Kinases
- Alleles
- Asia, Western
- Catalytic Domain
- Chromosomes, Human, Pair 19
- Europe
- Exons
- Family Health
- Female
- Genetic Heterogeneity
- Heterozygote
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data