A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. [electronic resource]
Producer: 20141118Description: 2189-97 p. digitalISSN:- 1460-2083
- Amelogenesis Imperfecta -- genetics
- Amino Acid Sequence
- Animals
- DNA -- genetics
- Dental Enamel -- metabolism
- Exome -- genetics
- Genes, Recessive
- Humans
- Immunoenzyme Techniques
- Integrin beta Chains -- physiology
- Mice
- Microscopy, Electron, Scanning
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Polymorphism, Single Nucleotide -- genetics
- Real-Time Polymerase Chain Reaction
- Sequence Homology, Amino Acid
- X-Ray Microtomography
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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