Titre :
  • The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Auteur : Tiosano, D ; Pannain, Silvana ; Vassart, Gilbert ; Parma, Jasmine ; Gershoni-Baruch, R ; Mandel, H ; Lotan, R ; Zaharan, Y ; Pery, M ; Weiss, R E ; Refetoff, Samuel ; Hochberg, Z
Informations sur la publication : Thyroid, 9, 9, (page 887-894)
Statut de publication : Publié, 1999-09
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Adolescent
Base Sequence
Child
Child, Preschool
Codon, Terminator -- genetics
Congenital Hypothyroidism
Consanguinity
DNA Primers -- genetics
Female
Glucocorticoids -- deficiency
Haplotypes
Humans
Hypothyroidism -- genetics
Hypothyroidism -- metabolism
Infant
Male
Pedigree
Phenotype
Point Mutation
Receptors, Corticotropin -- genetics
Receptors, Thyrotropin -- genetics
Thyroid Hormones -- deficiency
Note : Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue :
  • Anglais
Identificateurs : urn:issn:1050-7256 
info:pmid/10524567