Article
A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.
Proceedings of the National Academy of Sciences of the United States of America - 1 Jan 1990
Kadowaki T, Kadowaki H, Taylor S I
Abstract excerpt
Mutations in the insulin receptor gene can render the cell resistant to the biological action of insulin. We have studied a patient with leprechaunism (leprechaun/Minn-1), a genetic syndrome associated with intrauterine growth retardation and extreme insulin resistance. Genomic DNA from the patient was amplified by the polymerase chain reaction catalyzed by Thermus aquaticus (Taq) DNA polymerase, and the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.