Article
Identifying candidate Hirschsprung disease-associated RET variants.
American journal of human genetics - 1 May 2005
Burzynski Grzegorz M, Nolte Ilja M, Bronda Agnes, Bos Krista K, Osinga Jan, Plaza Menacho Ivan, Twigt Bas, Maas Saskia, Brooks Alice S, Verheij Joke B G M, Buys Charles H C M, Hofstra Robert M W
Abstract excerpt
Patients with sporadic Hirschsprung disease (HSCR) show increased allele sharing at markers in the 5' region of the RET locus, indicating the presence of a common ancestral RET mutation. In a previous study, we found a haplotype of six SNPs that was transmitted to 55.6% of our patients, whereas it was present in only 16.2% of the controls we used. Among the patients with that haplotype, 90.8% had it on both...
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