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Title : The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation - Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
Author(s) : Pardo V , Vono-Toniolo J , Rubio IG , Knobel M , Possato RF , Targovnik HM , Kopp P , Medeiros-Neto G |
Ref : J Clinical Endocrinology Metab , 94 :2938 , 2009 |
Abstract : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
ESTHER : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
PubMedSearch : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
PubMedID: 19509106 |
Gene_locus related to this paper: human-TG |
Title : A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation - Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
Author(s) : Rubio IG , Galrao AL , Pardo V , Knobel M , Possato RF , Camargo RR , Ferreira MA , Kanamura CT , Gomes SA , Medeiros-Neto G |
Ref : Arq Bras Endocrinol Metabol , 52 :1337 , 2008 |
Abstract : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
ESTHER : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
PubMedSearch : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
PubMedID: 19169491 |