Titre :
  • Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
Auteur : Grasberger, Helmut ; Mimouni-Bloch, Aviva ; Vantyghem, Marie-Christine ; Van Vliet, G. ; Abramowicz, Marc ; Metzger, Daniel L ; Abdullatif, Hussein ; Rydlewski, C. ; Macchia, Paolo E ; Scherberg, Neal ; Van Sande, Jacqueline ; Mimouni, Marc ; Weiss, R E ; Vassart, Gilbert ; Refetoff, Samuel
Informations sur la publication : The Journal of clinical endocrinology and metabolism, 90, 7, (page 4025-4034)
Statut de publication : Publié, 2005-07
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : DNA-Binding Proteins -- genetics
Female
Genes, Dominant
Humans
Linkage (Genetics)
Male
Nuclear Proteins -- genetics
Paired Box Transcription Factors
Pedigree
Thyroid Hormone Resistance Syndrome -- blood
Thyroid Hormone Resistance Syndrome -- genetics
Thyrotropin -- blood
Trans-Activators -- genetics
Note : Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue :
  • Anglais
Identificateurs : urn:issn:0021-972X 
info:doi/10.1210/jc.2005-0572
info:pii/jc.2005-0572
info:pmid/15870119