Titre:
  • Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
Auteur:Kopp, P.; Van Sande, Jacqueline; Parma, Jasmine; Duprez, Laurence; Gerber, Hans; Joss, E.; Jameson, J. Larry; Dumont, Jacques; Vassart, Gilbert
Informations sur la publication:The New England journal of medicine, 332, 3, page (150-154)
Statut de publication:Publié, 1995-01
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Amino Acid Sequence
Child
DNA Fingerprinting
Germ-Line Mutation
Humans
Hyperthyroidism -- congenital
Hyperthyroidism -- genetics
Infant, Newborn
Male
Molecular Sequence Data
Receptors, Thyrotropin -- genetics
Transfection
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0028-4793
info:doi/10.1056/NEJM199501193320304
info:scp/0028891649
info:pmid/7800007