Article
Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.
Surgery - 1 Apr 1995
Borst M J, VanCamp J M, Peacock M L, Decker R A
Abstract excerpt
BACKGROUND: The clinical association of multiple endocrine neoplasia type 2A (MEN 2A) and Hirschsprung's disease (HD), although rare, has been previously observed. Recently, germline mutations in the RET proto-oncogene, a transmembrane receptor with tyrosine kinase activity, have been detected in...
Topics
- Amino Acid Sequence
- Base Sequence
- Codon
- DNA Mutational Analysis
- DNA Primers
- DNA, Neoplasm
- Drosophila Proteins
- Exons
- Female
- Genetic Variation
- Hirschsprung Disease
- Humans
- Male
- Molecular Sequence Data
- Multiple Endocrine Neoplasia Type 2a
- Pedigree
- Point Mutation
- Proto-Oncogene Mas