Salmon-Musial AS

Title : Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220

Author(s) : Citterio CE , Rossetti LC , Souchon PF , Morales C , Thouvard-Viprey M , Salmon-Musial AS , Mauran PL , Doco-Fenzy M , Gonzalez-Sarmiento R , Rivolta CM , De Brasi CD , Targovnik HM

Ref : Mol Cell Endocrinol , 381 :220 , 2013

Abstract :

PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_381_220

PubMedID: 23933148

Gene_locus related to this paper: human-TG

Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716

Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM

Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010

Abstract :

PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716

PubMedID: 20447071

Gene_locus related to this paper: human-TG

Salmon-Musial AS

References (2)

1. Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220

2. Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716