Article
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
European journal of pediatrics - 1 Mar 1995
Superti-Furga A, Eich G, Bucher H U, Wisser J, Giedion A, Gitzelmann R, Steinmann B
Abstract excerpt
Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitu...
Topics
- Achondroplasia
- Amino Acid Sequence
- Base Sequence
- Cell Membrane
- Chromosomes, Human, Pair 4
- Cysteine
- Glycine
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Radiography
- Receptors, Fibroblast Growth Factor