Article révisé par les pairs
Titre:
  • A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
Auteur:Ieiri, T; Cochaux, Pascale; Targovnik, H. M.; Suzuki, M; Shimoda, S; Perret, Jason; Vassart, Gilbert
Informations sur la publication:The Journal of clinical investigation, 88, 6, page (1901-1905)
Statut de publication:Publié, 1991-12
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Consanguinity
Hormonogenic tyrosine
Polymerase chain reaction
Splicing
Thyroid
MeSH keywords:Adult
Amino Acid Sequence
Base Sequence
Congenital Hypothyroidism
Female
Goiter -- congenital
Goiter -- genetics
Humans
Hypothyroidism -- genetics
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
RNA, Messenger -- analysis
Thyroglobulin -- genetics
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0021-9738
info:doi/10.1172/JCI115513
info:scp/0026334976
info:pmid/1752952
PMC295759