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
Mots-clés MeSH : 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 : 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:pmid/15356023
cd-0068