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Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma

✍ Scribed by Xavier Matias-Guiu; Elena Lagarda; Monica Calaf; Arturo Azpiroz; Alberto De Leiva; Jaime Prat; Montserrat Baiget

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 84 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:5<476::aid-humu20>3.0.co;2-z

No coin nor oath required. For personal study only.

✦ Synopsis

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 this gene (Roberts et al., 1994).

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