Title : A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation - Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
Author(s) : Rivolta CM , Moya CM , Gutnisky VJ , Varela V , Miralles-Garcia JM , Gonzalez-Sarmiento R , Targovnik HM |
Ref : J Clinical Endocrinology Metab , 90 :3766 , 2005 |
Abstract : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
ESTHER : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
PubMedSearch : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
PubMedID: 15769978 |
Gene_locus related to this paper: human-TG |
Gene_locus related to this paper: human-TG |
Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-Garcia JM, Gonzalez-Sarmiento R, Targovnik HM (2005)
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation
J Clinical Endocrinology Metab
90 :3766
Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-Garcia JM, Gonzalez-Sarmiento R, Targovnik HM (2005)
J Clinical Endocrinology Metab
90 :3766