Article
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
American journal of human genetics - 1 Feb 1998
Bassett J H, Forbes S A, Pannett A A, Lloyd S E, Christie P T, Wooding C, Harding B, Besser G M, Edwards C R, Monson J P, Sampson J, Wass J A, Wheeler M H, Thakker R V
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors of the parathyroids, pancreatic islets, and anterior pituitary. The MEN1 gene, on chromosome 11q13, has recently been cloned, and mutations have been identified. We have characterized such MEN1 mutations, assessed the reliability of SSCP analysis for the detection of these mutations, and estimated the age-related...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.