Article
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
The New England journal of medicine - 21 Jan 2010
Smits Patrick, Bolton Andrew D, Funari Vincent, Hong Minh, Boyden Eric D, Lu Lei, Manning Danielle K, Dwyer Noelle D, Moran Jennifer L, Prysak Mary, Merriman Barry, Nelson Stanley F, Bonafé Luisa, Superti-Furga Andrea, Ikegawa Shiro, Krakow Deborah, Cohn Daniel H, Kirchhausen Tom, Warman Matthew L, Beier David R
Abstract excerpt
BACKGROUND: Establishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease. METHODS: We screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional cloning, we identified the causative mutation. RESULTS:...
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