The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

Abstract excerpt

The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late 20th century molecular genetics. Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. The process of detecting disease mutations, however, has...

Topics

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

• Share to Genetic Counseling
• Share to High-Throughput Nucleotide Sequencing