| Entry |
|
| Name |
|
| Gene |
TPO thyroid peroxidase isoform a precursor [KO: K00431]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
| H00251 | Thyroid dyshormonogenesis |
|
| Reference |
|
| Authors |
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T |
| Title |
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. |
| Journal |
|
| Reference |
|
| Authors |
Peters C, van Trotsenburg ASP, Schoenmakers N |
| Title |
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives |
| Journal |
|
| Reference |
|
| Authors |
Vono-Toniolo J, Kopp P |
| Title |
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. |
| Journal |
|
| Reference |
|
| Authors |
Grasberger H, Refetoff S |
| Title |
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. |
| Journal |
|
| LinkDB |
|