Titre:
  • A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.
Auteur:Targovnik, H. M.; Medeiros-Neto, G A; Varela, V; Cochaux, Pascale; Wajchenberg, B L; Vassart, Gilbert
Informations sur la publication:The Journal of clinical endocrinology and metabolism, 77, 1, page (210-215)
Statut de publication:Publié, 1993-07
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Amino Acid Sequence
Base Sequence
DNA -- chemistry
DNA -- genetics
Gene Deletion
Goiter -- congenital
Goiter -- genetics
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
RNA Splicing
RNA, Messenger -- chemistry
RNA, Messenger -- genetics
Thyroglobulin -- deficiency
Thyroglobulin -- genetics
Transcription, Genetic
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0021-972X
info:scp/0027244729
info:pmid/8325944