• Citer

Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.

par Tonacchera, Massimo ;Van Sande, Jacqueline ;Cetani, Filomena ;Swillens, Stéphane ;Schvartz, C;Winiszewski, P;Portmann, L;Dumont, Jacques Emile ;Vassart, Gilbert ;Parma, Jasmine
Référence The Journal of clinical endocrinology and metabolism, 81, 2, page (547-554)
Publication Publié, 1996-02

Article révisé par les pairs

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Titre:	Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Auteur:	Tonacchera, Massimo; Van Sande, Jacqueline; Cetani, Filomena; Swillens, Stéphane; Schvartz, C; Winiszewski, P; Portmann, L; Dumont, Jacques Emile; Vassart, Gilbert; Parma, Jasmine
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 81, 2, page (547-554)
Statut de publication:	Publié, 1996-02
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Amino Acid Sequence
	Base Sequence
	Cyclic AMP -- biosynthesis
	Female
	Humans
	Hyperplasia -- genetics
	Inositol Phosphates -- metabolism
	Male
	Molecular Sequence Data
	Mutation
	Pedigree
	Polymerase Chain Reaction
	Receptors, Thyrotropin -- genetics
	Sequence Analysis, DNA
	Thyroid Gland -- pathology
	Thyrotropin -- metabolism
	Thyrotropin -- pharmacology
	Transfection
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:doi/10.1210/jc.81.2.547
	info:scp/9044240477
	info:pmid/8636266