Application | Comment | Organism |
---|---|---|
medicine | mutations in enzyme gene should be considered as the molecular cause of congenital hypothyroidism in young patients with thyroid dyshormogenesis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D506N | heterozygous mutation isolating in clinically unaffected mother and in a brother, while the patient suffering congenital hypothyroidism additionally carries heterozygous mutation ins602g to fsX300 | Homo sapiens |
additional information | identification of heterozygous mutation in enzyme gene leading to premature stop at codon 300 and resulting in primary hypothyroidism | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
isoform THOX2, patients with congenital thyroidism | - |