Article
Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).
Human mutation - 1 Jan 1995
Lench N J, Winter G B
Abstract excerpt
Amelogenins are an heterogenous family of proteins produced by ameloblasts of the enamel organ during tooth development. Disturbances of enamel formation occur in amelogenesis imperfecta, a clinically heterogenous group of inherited disorders characterised by defective enamel biomineralisation. A...
Topics
- Amelogenesis Imperfecta
- Amelogenin
- Base Sequence
- Dental Enamel Proteins
- Exons
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- Male
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
- X Chromosome