Article
Three novel mutations causing complete T(4)-binding globulin deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2001
Reutrakul S, Janssen O E, Refetoff S
Abstract excerpt
Inherited T(4)-binding globulin deficiency is caused by mutations in the T(4)-binding globulin gene located on the X chromosome. We describe herein three novel mutations in three different families producing complete T(4)-binding globulin deficiency. The proposita of a family from Harwichport is a female with XO Turner's syndrome who expressed only the mutant T(4)-binding globulin allele. Her T(4)-binding...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.