Dynamic mutation: possible mechanisms and significance in human disease.

doi:10.1016/s0968-0004(97)01108-0

Back to search

Article

Dynamic mutation: possible mechanisms and significance in human disease.

Trends in biochemical sciences - 1 Nov 1997

Richards R I, Sutherland G R

Abstract excerpt

Increases in repeat-DNA copy number are the molecular basis of a growing list of human genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and a form of epilepsy. Repeat-DNA sequences undergo a unique process of dynamic mutation, the common properties of which p...

Topics

Genetic Diseases, Inborn
Humans
Mutation
Repetitive Sequences, Nucleic Acid

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.