Article
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
American journal of human genetics - 1 Sept 1998
Wilkin D J, Szabo J K, Cameron R, Henderson S, Bellus G A, Mack M L, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano C A
Abstract excerpt
More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. Sporadic cases of achondroplasia have been associated with advanced paternal age, sugge...
Topics
- Achondroplasia
- Base Sequence
- DNA Primers
- Female
- Genetic Variation
- Genomic Imprinting
- Humans
- Introns
- Male
- Molecular Sequence Data
- Paternal Age
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic