[A new mechanism of mutation in man: expansion of trinucleotide repeats].

Abstract excerpt

An analysis of a novel, recently discovered class of mutations in man - an expansion, i.e., an increase of the copy number of intragenic unstable trinucleotide repeats - is presented. The expansion of trinucleotide repeats causes the development of at least seven hereditary diseases which damage the nervous system: the fragile X chromosome syndrome (two separate variants of the disease - FRAXA and FRAXE),...

Topics

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

• Share to Genetic Diseases, Inborn
• Share to Mutation
• Share to Trinucleotide Repeats