Rogelio
González Sarmiento
Catedrático de Universidad
Hospital de Clínicas "José de San Martín"
Buenos Aires, ArgentinaPublications en collaboration avec des chercheurs de Hospital de Clínicas "José de San Martín" (4)
2015
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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
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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
Molecular and Cellular Endocrinology, Vol. 404, pp. 102-112
2013
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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
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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