Article
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.
Human genetics - 1 Jul 1995
Steinberger D, Mulliken J B, Müller U
Abstract excerpt
Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in th...
Topics
- Base Sequence
- Craniofacial Dysostosis
- Cysteine
- Humans
- Immunoglobulin Heavy Chains
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Receptor Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor