• Citer

Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid

par Meeus, Laurent ;Gilbert, B.;Rydlewski, C.;Parma, Jasmine ;Lienhardt Roussie, A.;Abramowicz, Marc ;Vilain, Catheline ;Christophe, Daniel ;Costagliola, Sabine ;Vassart, Gilbert
Référence The Journal of clinical endocrinology and metabolism, 89, page (4285-4291)
Publication Publié, 2004

Article révisé par les pairs

• Accès en ligne
• Détails
• Contenu
• Statistiques

Titre:	Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid
Auteur:	Meeus, Laurent; Gilbert, B.; Rydlewski, C.; Parma, Jasmine; Lienhardt Roussie, A.; Abramowicz, Marc; Vilain, Catheline; Christophe, Daniel; Costagliola, Sabine; Vassart, Gilbert
Informations sur la publication:	The Journal of clinical endocrinology and metabolism, 89, page (4285-4291)
Statut de publication:	Publié, 2004
Sujet CREF:	Biologie moléculaire
MeSH keywords:	Amino Acid Sequence
	Base Sequence
	Child
	Child, Preschool
	Congenital Hypothyroidism
	DNA-Binding Proteins -- genetics
	Female
	Humans
	Hypothyroidism -- genetics
	Hypothyroidism -- pathology
	Male
	Molecular Sequence Data
	Mutation
	Nuclear Proteins
	Paired Box Transcription Factors
	Thyroid Gland -- pathology
	Trans-Activators -- genetics
Note générale:	Journal Article
	Research Support, Non-U.S. Gov't
Langue:	Anglais
Identificateurs:	urn:issn:0021-972X
	info:doi/10.1210/jc.2004-0166
	info:pii/89/9/4285
	info:scp/4544229648
	info:pmid/15356023
	cd-0068