Article
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
Proceedings of the National Academy of Sciences of the United States of America - 15 Feb 1994
Carlson K M, Dou S, Chi D, Scavarda N, Toshima K, Jackson C E, Wells S A, Goodfellow P J, Donis-Keller H
Abstract excerpt
Multiple endocrine neoplasia type 2B (MEN 2B) is a human cancer syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytomas, mucosal neuromas, ganglioneuromas of the intestinal tract, and skeletal and ophthalmic abnormalities. It appears both as an inherited disorder and as de...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Drosophila Proteins
- Female
- Genome, Human
- Humans
- Male
- Models, Genetic
- Molecular Sequence Data
- Multiple Endocrine Neoplasia
- Mutation
- Pedigree
- Pheochromocytoma