Titre :
  • Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
Auteur : Targovnik, H. M. ; Frechtel, G D ; Mendive, Fernando ; Vono, J ; Cochaux, Pascale ; Vassart, Gilbert ; Medeiros-Neto, G A
Informations sur la publication : Thyroid, 8, 4, (page 291-297)
Statut de publication : Publié, 1998-04
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Adult
Alleles
Amino Acid Sequence
Base Sequence
Blotting, Southern
Brazil
Codon, Nonsense -- genetics
Congenital Hypothyroidism
DNA -- analysis
DNA -- genetics
Female
Gene Frequency
Genome, Human
Goiter -- congenital
Goiter -- genetics
Humans
Hypothyroidism -- genetics
Male
Molecular Sequence Data
Mutation -- physiology
Pedigree
Polymerase Chain Reaction
Thyroglobulin -- genetics
Note : Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:1050-7256 
info:pmid/9588493