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CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1

Authors :
Winnepenninckx, Birgitta
Debacker, Kim
Ramsay, Jacqueline
Smeets, Dominique
Smits, Arie
FitzPatrick, David R.
Kooy, Frank R.
Source :
American Journal of Human Genetics. Feb, 2007, Vol. 80 Issue 2, p221, 11 p.
Publication Year :
2007

Abstract

Study is presented in which an elongated polymorphic CGG repeat is identified as the molecular basis of FRA12A. This repeat is found in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery.

Details

Language :
English
ISSN :
00029297
Volume :
80
Issue :
2
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.162436963