Open AccessA novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism
Author(s) -
Luisella Alberti,
MC Proverbio,
Sabine Costagliola,
Giovanna Weber,
P. BeckPeccoz,
G Chiumello,
Luca Persani
Publication year - 2001
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.0.1450249
Subject(s) - thyrotropin receptor , germline mutation , mutation , germline , medicine , endocrinology , mutant , receptor , mutant protein , gene , biology , signal transduction , genetics , graves' disease , thyroid
Clinical and genetic investigations were undertaken in a case of familial hyperthyroidism, with onset of thyrotoxic symptoms varying between childhood/adolescence.
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