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 : No news
Comment : p.Q870H Gln870His c.2610G>T (p.Q851H Gln851His without 19-amino-acid signal peptide)
| Title : Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter - Perez-Centeno_1996_Thyroid_6_423 |
| Author(s) : Perez-Centeno C , Gonzalez-Sarmiento R , Mories MT , Corrales JJ , Miralles-Garcia JM |
| Ref : Thyroid , 6 :423 , 1996 |
| Abstract : Perez-Centeno_1996_Thyroid_6_423 |
| ESTHER : Perez-Centeno_1996_Thyroid_6_423 |
| PubMedSearch : Perez-Centeno_1996_Thyroid_6_423 |
| PubMedID: 8936666 |
| Gene_locus related to this paper: human-TG |
| Title : Thyroglobulin gene point mutation associated with non-endemic simple goitre - Corral_1993_Lancet_341_462 |
| Author(s) : Corral J , Martin C , Perez R , Sanchez I , Mories MT , San Millan JL , Miralles JM , Gonzalez-Sarmiento R |
| Ref : Lancet , 341 :462 , 1993 |
| Abstract : Corral_1993_Lancet_341_462 |
| ESTHER : Corral_1993_Lancet_341_462 |
| PubMedSearch : Corral_1993_Lancet_341_462 |
| PubMedID: 8094490 |
| Gene_locus related to this paper: human-TG |