The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR
(1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (<i>TSHB</i>). The <i>TSHB</i> mutation C105Vfs114X leads to isolated thyroid-stimulating-hormone-(TSH)-deficiency and...
Main Authors: | Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-11-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/20/22/5564 |
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