The Thyrotropin Receptor Mutation Database Update.
Thyroid
; 30(6): 931-935, 2020 06.
Article
em En
| MEDLINE
| ID: mdl-32111150
ABSTRACT
The thyrotropin receptor (TSHR) mutation database, consisting of all known TSHR mutations and their clinical characterizations, was established in 1999. The database contents are updated here with the same website (tsh-receptor-mutation-database.org). The new database contains 638 cases of TSHR mutations 448 cases of gain of function mutations (7 novel mutations and 41 new cases for previously described mutations since its last update in 2012) and 190 cases of loss of function mutations (28 novel mutations and 31 new cases for previously described mutations since its last update in 2012). This database is continuously updated and allows for rapid validation of patient TSHR mutations causing hyper- or hypothyroidism or insensitivity to TSH.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores da Tireotropina
/
Bases de Dados Genéticas
/
Mutação
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article