Article
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Nature genetics - 1 Oct 1998
Faiyaz ul Haque M, King L M, Krakow D, Cantor R M, Rusiniak M E, Swank R T, Superti-Furga A, Haque S, Abbas H, Ahmad W, Ahmad M, Cohn D H
Abstract excerpt
The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and the maintenance of cartilage and bone. We have studied a large inbred Pakistani family with a distinct form of recessively inherited spondyloepimetaphyseal dysplasia (SE...
Topics
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Codon, Terminator
- Consanguinity
- Genetic Linkage
- Humans
- Mice
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Pedigree
- Phosphotransferases (Alcohol Group Acceptor)