Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5′ splice site in the exon 6
| Autor: | Citterio, Cintia E., Morales, Cecilia M., Bouhours-Nouet, Natacha, Machiavelli, Gloria A., Bueno, Elena, Gatelais, Frédérique, Coutant, Regis, González-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M. * |
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| Zdroj: | In Molecular and Cellular Endocrinology 15 March 2015 404:102-112 |
| Databáze: | ScienceDirect |
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