Article révisé par les pairs
Titre:
  • A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
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