Germline mutations of the RET proto-oncogene have been found in familial and sporadic forms of Hirschsprung disease (HSCR), but also in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN2) syndromes, which comprise the medullary thyroid carcinoma (MTC) as an obligatory featu
A novel polymorphism in the coding sequence of the human RET proto-oncogene
✍ Scribed by Patrick Edery; Tania Attié; Lois M. Mulligan; Anna Pelet; Charis Eng; Brace A. J. Ponder; Arnold Munnich; Stanislas Lyonnet
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 111 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A novel polymorphism in the coding sequence of the human RET proto-oncogene is described. The RET proto-oncogene maps to chromosome 10q11.2, and is involved in multiple endocrine neoplasia (MEN 2A, MEN 2B), familial medullary thyroid carcinoma and Hirschsprung's disease.
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