Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

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 pat...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado: 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3108191/
https://ncbi.nlm.nih.gov/pubmed/20089971
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0900158
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