Titre:
  • A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis.
Auteur:Esapa, C T; Duprez, Laurence; Ludgate, Marian; Mustafa, M S; Kendall-Taylor, P; Vassart, Gilbert; Harris, P E
Informations sur la publication:Thyroid, 9, 10, page (1005-1010)
Statut de publication:Publié, 1999-10
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Animals
COS Cells
Codon
Cyclic AMP -- metabolism
DNA -- analysis
Female
Humans
Infant
Leucine
Point Mutation
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Receptors, Thyrotropin -- genetics
Receptors, Thyrotropin -- metabolism
Sequence Analysis, DNA
Thyroidectomy
Thyrotoxicosis -- genetics
Thyrotoxicosis -- surgery
Thyrotropin -- metabolism
Transfection
Valine
Note générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:1050-7256
info:scp/0032751937
info:pmid/10560955