Article
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
The Journal of clinical investigation - 1 Dec 1991
Ieiri T, Cochaux P, Targovnik H M, Suzuki M, Shimoda S, Perret J, Vassart G
Abstract excerpt
A case of congenital goiter with defective thyroglobulin synthesis has been studied in molecular terms. The patient is the fifth of a kindred of six, three of which have a goiter. The parents are first cousins. Segregation of thyroglobulin alleles in the family was studied by Southern blotting with a probe revealing a diallelic restriction fragment length polymorphism (RFLP). The results demonstrated that the...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Congenital Hypothyroidism
- Female
- Goiter
- Humans
- Hypothyroidism
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction