Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome.

Autor: de Bernabe, Daniel Beltran-Valero, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hulya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesus, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Hans G.
Zdroj: American Journal of Human Genetics. Nov2002, Vol. 71 Issue 5, p1033. 11p.
Databáze: Academic Search Ultimate