Article
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
Human mutation - 1 Jan 1995
McIntosh I, Abbott M H, Francomano C A
Abstract excerpt
Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COL10A1. A further three mutations have been identified, including two nonsense mutations (Y268X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutat...
Topics
- Amino Acid Sequence
- Base Sequence
- Collagen
- DNA
- Female
- Frameshift Mutation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein Biosynthesis