Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

1. Rivolta, C.M.
2. Louis-Tisserand, M.
3. Varela, V.
4. Gruñeiro-Papendieck, L.
5. Chiesa, A.
6. González-Sarmiento, R.
7. Targovnik, H.M.