par Abramowicz, Marc 
;Duprez, Laurence ;Parma, Jasmine ;Vassart, Gilbert ;Heinrichs, Claudine
Référence The Journal of clinical investigation, 99, 12, page (3018-3024)
Publication Publié, 1997-06
;Duprez, Laurence ;Parma, Jasmine ;Vassart, Gilbert ;Heinrichs, Claudine Référence The Journal of clinical investigation, 99, 12, page (3018-3024)
Publication Publié, 1997-06
Article révisé par les pairs
| Titre: |
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| Auteur: | Abramowicz, Marc; Duprez, Laurence; Parma, Jasmine; Vassart, Gilbert; Heinrichs, Claudine |
| Informations sur la publication: | The Journal of clinical investigation, 99, 12, page (3018-3024) |
| Statut de publication: | Publié, 1997-06 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Mots-clés: | Congenital hypothyroidism |
| Thyroglobulin | |
| Thyroid agenesis | |
| Thyrotropin receptor | |
| MeSH keywords: | Base Sequence |
| Binding Sites | |
| Congenital Hypothyroidism | |
| Consanguinity | |
| Female | |
| Flow Cytometry | |
| Homozygote | |
| Humans | |
| Hypothyroidism -- genetics | |
| Hypothyroidism -- pathology | |
| Infant, Newborn | |
| Male | |
| Mutation | |
| Pedigree | |
| Receptors, Thyrotropin -- genetics | |
| Receptors, Thyrotropin -- metabolism | |
| Second Messenger Systems | |
| Thyroid Gland -- abnormalities | |
| Thyrotropin -- metabolism | |
| Transfection | |
| Note générale: | Case Reports |
| Journal Article | |
| Research Support, Non-U.S. Gov't | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0021-9738 |
| info:doi/10.1172/JCI119497 | |
| info:scp/0030994365 | |
| info:pmid/9185526 | |
| PMC508154 |
