TY  - JOUR 
AU  - Citterio, Cintia E.
AU  - Morales, Cecilia M.
AU  - Bouhours-Nouet, Natacha
AU  - Machiavelli, Gloria A.
AU  - Gatelais, Frédérique
AU  - Coutant, Regis
AU  - González Sarmiento, Rogelio
AU  - Rivolta, Carina M.
AU  - Targovnik, Héctor M.
AU  - Bueno Martínez, Elena
PY  - 2015
SN  - 0303-7207
UR  - https://uvadoc.uva.es/handle/10324/65848
AB  - Several patients were identified with dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for the...
LA  - eng
TI  - 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
DO  - 10.1016/j.mce.2015.01.032
ER  -