| http://purl.uniprot.org/citations/11487571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11487571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11487571 | http://www.w3.org/2000/01/rdf-schema#comment | "Amelogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that shows both clinical and genetic heterogeneity. To date, mutations in the gene encoding amelogenin have been shown to underlie a subset of the X-linked recessive forms of AI. Although none of the genes underlying autosomal-dominant or autosomal-recessive AI have been identified, a locus for a local hypoplastic form has been mapped to human chromosome 4q11-q21. In the current investigation, we have analysed a family with an autosomal-dominant, smooth hypoplastic form of AI. Our results have shown that a splicing mutation in the splice donor site of intron 7 of the gene encoding the enamel-specific protein enamelin underlies the phenotype observed in this family. This is the first autosomal-dominant form of AI for which the genetic mutation has been identified. As this type of AI is clinically distinct from that localized previously to chromosome 4q11-q21, these findings highlight the need for a molecular classification of this group of disorders."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/10.16.1673"xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/10.16.1673"xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Davies R.M."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Davies R.M."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Harley K."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Harley K."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Dixon M.J."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Dixon M.J."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Rajpar M.H."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Rajpar M.H."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Laing C."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/author | "Laing C."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/pages | "1673-1677"xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/pages | "1673-1677"xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/title | "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/title | "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta."xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/11487571 | http://purl.uniprot.org/core/volume | "10"xsd:string |