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A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.

par Alberti, Luisella;Proverbio, M C;Costagliola, Sabine ;Weber, G;Beck-Peccoz, P;Chiumello, G;Persani, Luca
Référence European journal of endocrinology, 145, 3, page (249-254)
Publication Publié, 2001-09

Article révisé par les pairs

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Titre:	A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.
Auteur:	Alberti, Luisella; Proverbio, M C; Costagliola, Sabine; Weber, G; Beck-Peccoz, P; Chiumello, G; Persani, Luca
Informations sur la publication:	European journal of endocrinology, 145, 3, page (249-254)
Statut de publication:	Publié, 2001-09
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Animals
	COS Cells
	Child, Preschool
	Cloning, Molecular
	Cyclic AMP -- metabolism
	DNA -- blood
	Female
	Flow Cytometry
	Gene Expression
	Germ-Line Mutation
	Heterozygote
	Humans
	Hyperthyroidism -- genetics
	Mutagenesis, Site-Directed
	Pedigree
	Receptors, Thyrotropin -- genetics
	Thyrotropin -- pharmacology
	Transfection
Note générale:	Case Reports
	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0804-4643
	info:pii/1450249
	info:pmid/11517004