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 : deletion of 5' promoter region and exon1 to exon 11 of the TG gene in a heterozygote
| Title : Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter - Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| Author(s) : Gonzalez-Sarmiento R , Corral J , Mories MT , Corrales JJ , Miguel-Velado E , Miralles-Garcia JM |
| Ref : Thyroid , 11 :789 , 2001 |
| Abstract : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| ESTHER : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| PubMedSearch : Gonzalez-Sarmiento_2001_Thyroid_11_789 |
| PubMedID: 11525274 |
| Gene_locus related to this paper: human-TG |