Article
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range.
American journal of human genetics - 1 Jun 2002
Sullivan Amy K, Crawford Dana C, Scott Elizabeth H, Leslie Mary L, Sherman Stephanie L
Abstract excerpt
Fragile X syndrome, a form of X-linked mental retardation, results from the hyperexpansion of a CGG trinucleotide repeat located in the 5' untranslated region of the fragile X mental retardation (FMR1) gene. Relatively little is known about the initial mutation that causes a stable allele to become unstable and, eventually, to expand to the full mutation. In the present study, we have examined 1,452 parent-child...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.