Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.

Abstract excerpt

Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal- or childhood-onset diseases for pediatricians. Identifying "novel" disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no...

Topics

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

• Share to Child
• Share to Comparative Genomic Hybridization
• Share to High-Throughput Nucleotide Sequencing