Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Mizokami_2019_Intern.Med_58_2669
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.K1393X LYs1393Stop (p.K1374X Lys1374Stop without 19-aminoacid signal peptide) homozygous nonsense mutation in a 64-year-old man with congenital primary hypothyroidism
| Title : Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement - Mizokami_2019_Intern.Med_58_2669 |
| Author(s) : Mizokami T , Fukata S , Kogai T , Hishinuma A , Hamada K , Maruta T , Higashi K , Tajiri J |
| Ref : Intern Med , 58 :2669 , 2019 |
| Abstract : Mizokami_2019_Intern.Med_58_2669 |
| ESTHER : Mizokami_2019_Intern.Med_58_2669 |
| PubMedSearch : Mizokami_2019_Intern.Med_58_2669 |
| PubMedID: 31178475 |
| Gene_locus related to this paper: human-TG |