… dynamic mutation (Richards et al., 1992, and references therein). Dynamic mutation is
responsible for at least two (and possibly three) important human genetic diseases. In the case of …

… of human diseases and chromosomal fragile sites has identified dynamic mutation as an
important mechanism in human … form of mutation and the pathogenic pathways leading from the …

… to phenotype and for inheritance patterns- dynamic mutations can show X-linked, recessive
or … that dynamic mutation could have a widespread role in human susceptibility to disease. …

… This paper will briefly review work on the myriad of DNA structures formed from triplet repeats
associated with human diseases. It will then focus on recent work from our laboratory on …

… A completely new mutational event associated with human diseases - the dynamic mutation
… The molecular mechanism underlying dynamic mutation involves the expansion and …

… plies to some important human disease genes. Unlike the classical … Dynamic mutations
are now linked with a growing number of human diseases. In addition to fragile X, the list …

… element and mechanism of mutation. The genetic element was … of mutation, which we have
termed dynamic mutation,4 is the … or static mutation in which the product of a mutation is no …

… humans the brain growth spurt ends at birth) 31,32,37,38,39,40,41,42 . In fact, many but not
all CAG diseases … Most of the polyGlu diseases in humans and in mouse models show some …

… the CpG dinucleotide was also a mutation hotspot in a number of other human disease genes
including PAH [MIM# … For this reason, we have termed this mechanism dynamic mutation.” …

… Dynamic mutations have been found only in the human species, and possible reasons for
this are … Furthermore, a group of human diseases has been shown to result from a dynamic …