Article
The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.
Human mutation - 1 Mar 2008
Szeverenyi Ildiko, Cassidy Andrew J, Chung Cheuk Wang, Lee Bernett T K, Common John E A, Ogg Stephen C, Chen Huijia, Sim Shu Yin, Goh Walter L P, Ng Kee Woei, Simpson John A, Chee Li Lian, Eng Goi Hui, Li Bin, Lunny Declan P, Chuon Danny, Venkatesh Aparna, Khoo Kian Hoe, McLean W H Irwin, Lim Yun Ping, Lane E Birgitte
Abstract excerpt
We describe a revised and expanded database on human intermediate filament proteins, a major component of the eukaryotic cytoskeleton. The family of 70 intermediate filament genes (including those encoding keratins, desmins, and lamins) is now known to be associated with a wide range of diverse diseases, at least 72 distinct human pathologies, including skin blistering, muscular dystrophy, cardiomyopathy,...
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