Duchenne muscular dystrophy (DMD) is an X-linked degenerative disorder of muscle, caused by gross rearrangements by the dystrophin gene in two-thirds of cases. The remaining one-third of patients may carry more subtle mutations that are difficult to detect because of the large size and complexity of
Somatic RET proto-oncogene mutations in sporadic C-cell carcinoma of the thyroid
β Scribed by A. Frilling; M. Bockhorn; V. Kalinin; M. Liedke; M. Kaun; C. E. Broelsch
- Publisher
- Springer
- Year
- 1997
- Tongue
- German
- Weight
- 169 KB
- Volume
- 68
- Category
- Article
- ISSN
- 0009-4722
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Germline and somatic mutations of the RET proto-oncogene are important pathogenetic factors in hereditary and sporadic forms of medullary thyroid carcinoma (MTC). We have therefore analysed exons 10, I I. 13, 14 and 16 of this gene in 85 individuals from 16 Austrian families who, according to clinic
Missense germline mutations of the RET proto-oncogene have recently been identified in the hereditary cancer syndromes MENZA, MEN2B, and FMTC, all characterized by medullary carcinoma, hut also including phaeochromocytoma in MEN2A and MEN2B and parathyroid disease in MENZA. In addition, somatic RET
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