Article
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.
Genomics - 10 Aug 1995
Knowlton R G, Cekleniak J A, Cohn D H, Briggs M D, Hoffman S M, Brandriff B F, Olsen A S
Abstract excerpt
Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are autosomal dominant chondrodysplasias that have similar phenotypes at both clinical and cytological levels. With the recent mapping of PSACH and one form of MED (EDM1) to the pericentromeric region of chromosome 19, it is lik...
Topics
- Base Sequence
- Chromosomes, Human, Pair 19
- DNA Primers
- Female
- Genetic Markers
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Pedigree
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Restriction Mapping