Browsing SCIENTIFIC PRODUCTION by Author "Machiavelli, Gloria A."

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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

Citterio, Cintia E.; Morales, Cecilia M.; Bouhours-Nouet, Natacha; Machiavelli, Gloria A.; Gatelais, Frédérique; Coutant, Regis; González Sarmiento, Rogelio; Rivolta, Carina M.; Targovnik, Héctor M.; Bueno Martínez, Elena (2015)