The thyrotropin receptor mutation database update

A Stephenson, L Lau, M Eszlinger, R Paschke - Thyroid, 2020 - liebertpub.com
A Stephenson, L Lau, M Eszlinger, R Paschke
Thyroid, 2020liebertpub.com
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 …
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.
Mary Ann Liebert