A duplication of 12 bp in the critical cysteine rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. [electronic resource]
Producer: 19970715Description: 587-90 p. digitalISSN:- 0964-6906
- Alleles
- Cysteine -- chemistry
- Drosophila Proteins
- Electrophoresis, Polyacrylamide Gel
- Exons -- genetics
- Female
- Humans
- Hypercalcemia -- genetics
- Hyperplasia
- Male
- Multiple Endocrine Neoplasia Type 2a -- genetics
- Mutation
- Parathyroid Glands -- pathology
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Proto-Oncogene Mas
- Proto-Oncogene Proteins -- chemistry
- Proto-Oncogene Proteins c-ret
- Receptor Protein-Tyrosine Kinases -- chemistry
- Repetitive Sequences, Nucleic Acid -- genetics
- Sequence Analysis
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Publication Type: Journal Article
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