Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism

OBJECTIVE: The inactivating mutation of thyrotropin receptor (TSHR) gene results in partial or complete insensitivity of thyrotropin (TSH) and dysfunction of the TSH-TSHR-cAMP cascade. Therefore, it may cause congenital hypothyroidism (CH). Depending on the degree of impairment of TSHR function, pat...

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Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 45(2007), 7 vom: 23. Juli, Seite 508-12
Auteur principal: Yuan, Zhe-feng (Auteur)
Autres auteurs: Luo, Yan-fei, Wu, Yi-dong, Shen, Zheng, Zhao, Zheng-yan
Format: Article
Langue:Chinese
Publié: 2007
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Journal Article Receptors, Thyrotropin Thyrotropin 9002-71-5 DNA 9007-49-2