Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : \;\;Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185
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 : Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder
| Title : Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio - Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| Author(s) : Matsuyama M , Sawada H , Inoue S , Hishinuma A , Sekiya R , Sato Y , Moritake H |
| Ref : Clin Pediatr Endocrinol , 31 :185 , 2022 |
| Abstract : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| ESTHER : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| PubMedSearch : Matsuyama_2022_Clin.Pediatr.Endocrinol_31_185 |
| PubMedID: 35928386 |
| Gene_locus related to this paper: human-TG |