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

Lignende værker

• Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.
  af: Medeiros-Neto, G, et al.
  Udgivet: (1996)
• A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
  af: Eve Stern, et al.
  Udgivet: (2022-06-01)
• The congenital goiter mutation is linked to the thyroglobulin gene in the mouse.
  af: Taylor, B A, et al.
  Udgivet: (1987)
• Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
  af: Abramowicz, M J, et al.
  Udgivet: (1992)
• Persistent goiter with congenital hypothyroidism due to mutation in gene
  af: So Yoon Jung, et al.
  Udgivet: (2020-03-01)