Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. [electronic resource]
Producer: 20060228Description: 676-82 p. digitalISSN:- 0300-0664
- Adolescent
- Adult
- Calcitonin -- blood
- Calcium
- Carcinoma, Medullary -- genetics
- Catecholamines -- urine
- Child
- Codon
- Female
- Humans
- Male
- Metanephrine -- urine
- Middle Aged
- Multiple Endocrine Neoplasia Type 2a -- diagnosis
- Pedigree
- Pentagastrin
- Pheochromocytoma -- genetics
- Point Mutation
- Polymorphism, Restriction Fragment Length
- Proto-Oncogene Proteins c-ret -- genetics
- Sequence Analysis, DNA
- Thyroid Gland -- pathology
- Thyroid Neoplasms -- genetics
- Vanilmandelic Acid -- urine
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Publication Type: Journal Article
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