A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Ítems similars

• Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.
  per: Medeiros-Neto, G, et al.
  Publicat: (1996)
• A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
  per: Eve Stern, et al.
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• The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
  per: Taylor, B A, et al.
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• Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
  per: Abramowicz, M J, et al.
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• Persistent goiter with congenital hypothyroidism due to mutation in gene
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