Unsuccessful attempt to detect genetic mutation in tuberous sclerosis utilizing the polymerase chain reaction.

Abstract excerpt

Although tuberous sclerosis is supposed to be a phacomatosis inherited as an autosomal dominant trait, many cases develop without any affected parents or grandparents. In recent years, many vigorous investigations have been concentrated on finding the mutant gene, and possible candidate genes have been mapped on 9q34 and other chromosomes. In order to find a way of diagnosing asymptomatic carriers or patients, we...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Base Sequence
• Share to Molecular Sequence Data