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
MeSH keywords: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 générale:Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:1050-7256
info:scp/0031960583
info:pmid/9588493