Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : MAY-25-2007
Comment : p.L253fsX3 L253fsX3 c.759-760insA (p.L234fsX237 L234fsX237 without 19-amino-acid signal peptide) compound heterozygote with C183Y(C164Y) mutation
| Title : Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene - Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| Author(s) : Caputo M , Rivolta CM , Esperante SA , Gruneiro-Papendieck L , Chiesa A , Pellizas CG , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 67 :351 , 2007 |
| Abstract : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| ESTHER : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedID: 17532758 |
| Gene_locus related to this paper: human-TG |