Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma.

Autor: Schwabova, Jaroslava1,2 (AUTHOR) schwabova@gmail.com, Brozkova, Dana Safka1 (AUTHOR), Petrak, Borivoj1 (AUTHOR), Mojzisova, Mahulena3 (AUTHOR), Pavlickova, Klara4 (AUTHOR), Haberlova, Jana1 (AUTHOR), Mrazkova, Lenka5 (AUTHOR), Hedvicakova, Petra6 (AUTHOR), Hornofova, Ludmila4 (AUTHOR), Kaluzova, Marie1 (AUTHOR), Fencl, Filip7 (AUTHOR), Krutova, Marcela1 (AUTHOR), Zamecnik, Josef4 (AUTHOR), Seeman, Pavel1 (AUTHOR)
Zdroj: Journal of Neurogenetics. Dec2013, Vol. 27 Issue 4, p163-169. 7p.
Databáze: Academic Search Ultimate
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