| Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies. Esperante S.A., Rivolta C.M., Caputo M., Gonzalez-Sarmiento R., Targovnik H.M.
Mol. Cell. Probes 22:281-286(2008) · Mapped (6) |
| Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. Caputo M., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Pellizas C.G., Gonzalez-Sarmiento R., Targovnik H.M.
Clin. Endocrinol. (Oxf.) 67:351-357(2007) · UniProtKB (1) · Mapped (8) |
| Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A-->C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Varela V., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Targovnik H.M.
Clin. Chem. 52:182-191(2006) · UniProtKB (1) · Mapped (1) |
| Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Moya C.M., Domene S., Varela V., Targovnik H.M.
Hum. Mutat. 22:259-259(2003) · UniProtKB (1) |
