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| Title : 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_2015_Mol.Cell.Endocrinol_404_102 |
| Author(s) : Citterio CE , Morales CM , Bouhours-Nouet N , Machiavelli GA , Bueno E , Gatelais F , Coutant R , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 404 :102 , 2015 |
| Abstract : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| ESTHER : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| PubMedSearch : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| PubMedID: 25633667 |
| Gene_locus related to this paper: human-TG |
| Title : A new compound heterozygous for c.886C>T\/c.2206C>T [p.R277X\/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism - |
| Author(s) : Citterio CE , Coutant R , Rouleau S , Miralles Garcia JM , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 74 :533 , 2011 |
| PubMedID: 21128992 |
| Gene_locus related to this paper: human-TG |