DNA repeat expansion is the mutational mechanism in a number of high-profile genetic diseases such as fragile X syndrome, myotonic dystrophy and Huntington's disease. Since the discovery of this mechanism more than a decade ago many new findings have been reported, and the study of repeat expansion has virtually become a sub-specialty of human molecular genetics. This special issue of Cytogenetic and Genome Research reviews numerous aspects of nucleotide repeat expansion, mutations, and the proteins affected, including mechanisms of expansion, the molecular basis of repeat-associated disorders, animal models, and clinical insights. Several papers focus on rare and common fragile sites, discussing in detail what is currently known and evaluating their contribution to human disease. This highly authoritative series of articles written by leading investigators is recommended reading not only to students but also to scientists experienced in human genetics and clinicians dealing with patients suffering from repeat expansion disorders.
Publisher: S Karger AG
Number of pages: 298
Weight: 1210 g
Dimensions: 230 x 216 x 18 mm
You may also be interested in...
Please sign in to write a review
Thank you for your reservation
Your order is now being processed and we have sent a confirmation email to you at
When will my order be ready to collect?
Call us on or send us an email at
Unfortunately there has been a problem with your order
Please try again or alternatively you can contact your chosen shop on or send us an email at