Article
Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance.
The Journal of clinical endocrinology and metabolism - 1 May 1994
Wertheimer E, Litvin Y, Ebstein R P, Bennet E R, Barbetti F, Accili D, Taylor S I
Abstract excerpt
Molecular scanning techniques, such as denaturing gradient gel electrophoresis (DGGE), greatly facilitate screening candidate genes for mutations. We have used DGGE to screen for mutations in the insulin receptor gene in a family in which four of five daughters were affected by type A insulin res...
Topics
- Adolescent
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Child
- Exons
- Gene Deletion
- Humans
- Insulin Resistance
- Molecular Sequence Data
- Mutation
- Receptor, Insulin