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
;Vassart, Gilbert ;Costagliola, Sabine Référence European journal of pediatrics, 167, 11, page (1231-1237)
Publication Publié, 2008-11
Article révisé par les pairs
| Titre: |
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| 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 |
