Article
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.
Gene expression patterns : GEP - 1 Feb 2007
Palmer Stephen J, Tay Enoch S E, Santucci Nicole, Cuc Bach Thi Thu, Hook Jeff, Lemckert Frances A, Jamieson Robyn V, Gunnning Peter W, Hardeman Edna C
Abstract excerpt
The gene GTF2IRD1 is localized within the critical region on chromosome 7 that is deleted in Williams syndrome patients. Genotype-phenotype comparisons of patients carrying variable deletions within this region have implicated GTF2IRD1 and a closely related homolog, GTF2I, as prime candidates for the causation of the principal symptoms of Williams syndrome. We have generated mice with an nls-LacZ knockin mutation...
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