Article
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
Human molecular genetics - 1 Jan 1998
Decker R A, Peacock M L, Watson P
Abstract excerpt
The RET proto-oncogene encodes a transmembrane receptor with tyrosine kinase activity. Germline mutations in RET are responsible for a number of inherited diseases. These include the dominantly inherited cancer syndromes multiple endocrine neoplasia types 2A and 2B (MEN 2A and MEN 2B) and familia...
Topics
- Base Sequence
- Drosophila Proteins
- Female
- Genotype
- Hirschsprung Disease
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Proto-Oncogene Mas
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins c-ret
- Receptor Protein-Tyrosine Kinases