Article
Alternative splicing of the insulin receptor isoforms is altered in patients with leprechaunism.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Dec 1994
van der Vorm E R, Maassen J A
Abstract excerpt
Leprechaunism is a syndrome of severe insulin resistance. In general, mutations in both alleles of the insulin receptor are required for developing the leprechaun phenotype. Recently, we described a leprechaun patient having an Arg for Gly substitution in one allele of the insulin receptor wherea...
Topics
- Base Sequence
- DNA
- Exons
- Fibroblasts
- Humans
- Insulin Resistance
- Isomerism
- Molecular Sequence Data
- Mutation
- Phenotype
- RNA
- Receptor, Insulin