Article
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG - 1 Jan 1996
Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo M L, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus M L, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A
Abstract excerpt
A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin gen...
Topics
- Charcot-Marie-Tooth Disease
- Chromosomes, Human, Pair 17
- Connexins
- Europe
- Gene Deletion
- Gene Frequency
- Genetic Testing
- Hereditary Sensory and Motor Neuropathy
- Humans