Article
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.
Human mutation - 1 Jan 1998
Raskind W H, Conrad E U, Matsushita M, Wijsman E M, Wells D E, Chapman N, Sandell L J, Wagner M, Houck J
Abstract excerpt
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by growth of benign bone tumors. Three chromosomal loci have been implicated in this genetically heterogeneous disease: EXT1 at 8q24, EXT2 at 11p13, and EXT3 on 19p. EXT1 and EXT2 were recently cloned. We evaluate...
Topics
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 19
- Chromosomes, Human, Pair 8
- DNA Mutational Analysis
- Exostoses, Multiple Hereditary
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- Male
- Mutation
- N-Acetylglucosaminyltransferases
- Pedigree
- Proteins
- Exostosin 1