Article
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
American journal of human genetics - 1 May 1990
Dacou-Voutetakis C, Feltquate D M, Drakopoulou M, Kourides I A, Dracopoli N C
Abstract excerpt
Hereditary hypothyroidism caused by thyroid-stimulating hormone (TSH) deficiency is a rare autosomal recessive disease. Affected individuals show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. In this paper, we describe...
Topics
- Alleles
- Amino Acid Sequence
- Blotting, Southern
- Cell Line
- Child
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Female
- Genes
- Humans
- Hypothyroidism
- Male
- Mutation
- Nucleic Acid Hybridization
- Pedigree
- Polymorphism, Restriction Fragment Length
- Restriction Mapping