A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.
van der Hoek
Y Y
YY
Department of Clinical Chemistry and Internal Medicine, St. Antonius Hospital, Nieuwegein, The Netherlands. y.vanderhoek@kcl-azn.demon.nl
Mul-Steinbusch
M W
MW
Slee
P H
PH
D000293:Adolescent; D000328:Adult; D003596:Cytosine; D005260:Female; D006801:Humans; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D011988:Receptors, Thyroid Hormone / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*
D020033:Protein Isoforms; D011988:Receptors, Thyroid Hormone; D003596:Cytosine