-transparent.png){kind=logo}
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.
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
December 2003,
Thyroid : official journal of the American Thyroid Association,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
October 2012,
European thyroid journal,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
June 1999,
Thyroid : official journal of the American Thyroid Association,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
January 2009,
Genome medicine,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
September 2005,
Human mutation,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
June 1999,
European journal of endocrinology,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
June 1999,
The Journal of clinical endocrinology and metabolism,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
January 1997,
Nucleic acids research,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
June 2003,
Human mutation,
Alexandra Stephenson, and
Lorraine Lau, and
Markus Eszlinger, and
Ralf Paschke
January 2003,
Nucleic acids research,
