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amelogenesis imperfecta type 1F
Summary
- Synonym
-
- AI1F
- amelogenesis imperfecta hypoplastic type IF
- amelogenesis imperfecta type IF
- Definition
- An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.
- Super Class
- amelogenesis imperfecta autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110065
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NP70 | Ameloblastin |
