MEDICINA MOLECULAR
Hospital de Clínicas "José de San Martín"
Buenos Aires, ArgentinaPublications in collaboration with researchers from Hospital de Clínicas "José de San Martín" (4)
2015
-
Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression
Molecular and Cellular Endocrinology, Vol. 404, pp. 9-15
-
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
Molecular and Cellular Endocrinology, Vol. 404, pp. 102-112
2013
-
New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
Molecular and Cellular Endocrinology, Vol. 365, Núm. 2, pp. 277-291
-
Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism
Molecular and Cellular Endocrinology, Vol. 381, Núm. 1-2, pp. 220-229