http://www.bioproductguide.com/blog A comprehensive guide to bio products for medical professionals Fri, 11 Jun 2010 08:56:43 +0000 http://wordpress.org/?v=2.8.2 en hourly 1 http://www.bioproductguide.com/blog/2008/12/08/mednik-a-novel-genetic-syndrome/ http://www.bioproductguide.com/blog/2008/12/08/mednik-a-novel-genetic-syndrome/#comments Mon, 08 Dec 2008 10:25:26 +0000 Jim Marino http://www.bioproductguide.com/blog/2008/12/08/mednik-a-novel-genetic-syndrome/ Canadian researchers announce the discovery of MEDNIK, a debilitating genetic syndrome, in a study published December 5 in the open-access journal PLoS Genetics.  The team demonstrates that this syndrome is caused by a newly found mutation in the human AP1S1 gene. Dr. Patrick Cossette and his team discovered MEDNIK syndrome in a group of families in Quebec that share a common ancestor.  The syndrome is characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia (MEDNIK).

]]> http://www.bioproductguide.com/blog/2008/12/08/mednik-a-novel-genetic-syndrome/feed/ 0