Article
Identification of novel mutations in the human EXT1 tumor suppressor gene.
Human genetics - 1 May 1997
Wells D E, Hill A, Lin X, Ahn J, Brown N, Wagner M J
Abstract excerpt
Hereditary multiple exostoses (EXT) is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3, respectively. Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor sup...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 8
- DNA Primers
- Exons
- Exostoses, Multiple Hereditary
- Female
- Genes, Tumor Suppressor
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- N-Acetylglucosaminyltransferases
- Pedigree