• Citer

The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

par Tiosano, D;Pannain, Silvana;Vassart, Gilbert ;Parma, Jasmine ;Gershoni-Baruch, R;Mandel, H;Lotan, R;Zaharan, Y;Pery, M;Weiss, R E;Refetoff, Samuel ;Hochberg, Z
Référence Thyroid, 9, 9, page (887-894)
Publication Publié, 1999-09

Article révisé par les pairs

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Titre:	The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Auteur:	Tiosano, D; Pannain, Silvana; Vassart, Gilbert; Parma, Jasmine; Gershoni-Baruch, R; Mandel, H; Lotan, R; Zaharan, Y; Pery, M; Weiss, R E; Refetoff, Samuel; Hochberg, Z
Informations sur la publication:	Thyroid, 9, 9, page (887-894)
Statut de publication:	Publié, 1999-09
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adolescent
	Base Sequence
	Child
	Child, Preschool
	Codon, Terminator -- genetics
	Congenital Hypothyroidism
	Consanguinity
	DNA Primers -- genetics
	Female
	Glucocorticoids -- deficiency
	Haplotypes
	Humans
	Hypothyroidism -- genetics
	Hypothyroidism -- metabolism
	Infant
	Male
	Pedigree
	Phenotype
	Point Mutation
	Receptors, Corticotropin -- genetics
	Receptors, Thyrotropin -- genetics
	Thyroid Hormones -- deficiency
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
	Research Support, U.S. Gov't, P.H.S.
Langue:	Anglais
Identificateurs:	urn:issn:1050-7256
	info:scp/0032881333
	info:pmid/10524567