Titre:
  • Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H(2)O(2)-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
Auteur:Hoste, Candice; Rigutto, Sabrina; Van Vliet, Guy; Miot, Françoise; De Deken, Xavier
Informations sur la publication:Human mutation, 31, 4, page (E1304-E1319)
Statut de publication:Publié, 2010-04
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Congenital hypothyroidism
DUOX
DUOXA
Thyroid hormone metabolism
Note générale:Journal Article
FLWIN
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1059-7794
info:doi/10.1002/humu.21227
info:scp/77950386307
info:pmid/20187165
info:ulb-repo/set/1#26177