Titre :
  • Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
Auteur : Deladoëy, Johnny ; Pfarr, Nicole ; Vuissoz, Jean-Marc ; Parma, Jasmine ; Vassart, Gilbert ; Biesterfeld, Stefan ; Pohlenz, Joachim ; Van Vliet, G.
Informations sur la publication : The Journal of clinical endocrinology and metabolism, 93, 2, (page 627-633)
Statut de publication : Publié, 2008-02
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Amino Acid Sequence
Base Sequence
Congenital Hypothyroidism -- enzymology
Congenital Hypothyroidism -- genetics
DNA -- genetics
Female
Goiter -- enzymology
Goiter -- genetics
Humans
Infant, Newborn
Iodide Peroxidase -- chemistry
Iodide Peroxidase -- genetics
Male
Models, Molecular
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
Sequence Alignment
Static Electricity
Surface Properties
Note : Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:0021-972X 
info:doi/10.1210/jc.2007-2276
info:pii/jc.2007-2276
info:pmid/18029453