Fig. 2

THRB nucleotide sequences amplified from the genomic DNA of the patient. The mutation, a deletion of “actcttccccc” at position 1347_1357 in THRB cDNA, changed the amino acid sequence from 449–461 “ELFPPLFLEVFED” to 449–459 “DFVLGSVRGLD” and made two amino acids in the T3 binding domain shorter, when compared with wild type THRB