Article
Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.
Human molecular genetics - 1 Apr 1994
McMahon R, Mulligan L M, Healey C S, Payne S J, Ponder M, Ferguson-Smith M A, Barton D E, Ponder B A
Abstract excerpt
We have designed PCR primers that permit the rapid non-isotopic detection of mutations in codon 634 of the RET proto-oncogene, the causative mutations in over 80% of MEN 2A and 50% of FMTC families. In this paper we report the investigation of eleven MEN 2A families referred to the East Anglian R...
Topics
- Base Sequence
- Biomarkers, Tumor
- Calcitonin
- Carcinoma, Medullary
- Child
- Codon
- DNA Mutational Analysis
- DNA Primers
- DNA, Neoplasm
- Drosophila Proteins
- Female
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Hyperplasia
- Male
- Molecular Sequence Data
- Multiple Endocrine Neoplasia