Article
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
The Journal of clinical endocrinology and metabolism - 1 Aug 1998
Teh B T, Kytölä S, Farnebo F, Bergman L, Wong F K, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by neoplasia of the parathyroid glands, the endocrine pancreas, and the anterior pituitary gland. In addition, families with isolated endocrine neoplasia, notably familial isolated hyperparathyroidism (FIHP...
Topics
- Acromegaly
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Gene Deletion
- Genetic Markers
- Genotype
- Haplotypes
- Humans
- Hyperparathyroidism