par Akcurin, Sema;Turkkahraman, Doga;Tysoe, Carolyn;Ellard, Sian;De Leener, Anne ;Vassart, Gilbert ;Costagliola, Sabine
Référence European journal of pediatrics, 167, 11, page (1231-1237)
Publication Publié, 2008-11
Référence European journal of pediatrics, 167, 11, page (1231-1237)
Publication Publié, 2008-11
Article révisé par les pairs
Titre: |
|
Auteur: | Akcurin, Sema; Turkkahraman, Doga; Tysoe, Carolyn; Ellard, Sian; De Leener, Anne; Vassart, Gilbert; Costagliola, Sabine |
Informations sur la publication: | European journal of pediatrics, 167, 11, page (1231-1237) |
Statut de publication: | Publié, 2008-11 |
Sujet CREF: | Sciences bio-médicales et agricoles |
Mots-clés: | Activating mutation |
Familial | |
TSH receptor | |
MeSH keywords: | Child, Preschool |
Cyclic AMP -- metabolism | |
Gene Expression -- genetics | |
Germ-Line Mutation -- genetics | |
Humans | |
Hyperthyroidism -- enzymology | |
Hyperthyroidism -- genetics | |
Immunoglobulins, Thyroid-Stimulating -- immunology | |
Infant, Newborn | |
Iodide Peroxidase -- metabolism | |
Male | |
Point Mutation -- genetics | |
Polymerase Chain Reaction | |
Polymorphism, Single Nucleotide -- genetics | |
Receptors, Thyrotropin -- genetics | |
Receptors, Thyrotropin -- immunology | |
Thyroxine -- blood | |
Transfection -- methods | |
Triiodothyronine -- blood | |
Valine -- metabolism | |
Note générale: | Case Reports |
Journal Article | |
Langue: | Anglais |
Identificateurs: | urn:issn:0340-6199 |
info:doi/10.1007/s00431-007-0659-9 | |
info:scp/51849084353 | |
info:pmid/18175146 |