Furlanetto, T W <br/><br/>
A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.  [electronic resource] 

 -  Molecular genetics and metabolism  Nov 2000 
 - 520-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1006/mgme.2000.3088  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Substitution<br/>Base Sequence<br/>Binding, Competitive<br/>Brazil<br/>Cell Line<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Dose-Response Relationship, Drug<br/>Family Health<br/>Female<br/>Gene Expression Regulation--genetics<br/>Heterozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Pedigree<br/>Point Mutation<br/>Receptors, Thyroid Hormone--genetics<br/>Recombinant Fusion Proteins--genetics<br/>Thyroid Hormone Resistance Syndrome--genetics<br/>Transfection<br/>Triiodothyronine--metabolism