| http://purl.uniprot.org/citations/19329462 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19329462 | http://www.w3.org/2000/01/rdf-schema#comment | "Amelogenesis imperfecta (AI) is a genetically and phenotypically heterogeneous genetic disorder affecting tooth enamel without other non-oral syndromic conditions. Based on a review of the literature, the authors constructed a candidate-gene-based mutational analysis strategy. To test the strategy, they identified two Turkish families with hypoplastic enamel without any other non-oral syndromic phenotype. The authors analyzed all exons and exon/intron boundaries of the enamelin (ENAM) gene for family 1 and the DLX3 and ENAM genes for family 2, to identify the underlying genetic etiology. The analysis revealed 2 ENAM mutations (autosomal-dominant g.14917delT and autosomal-recessive g.13185-13186insAG mutations). A single T deletion in exon 10 is a novel deletional mutation (g.14917delT, c.2991delT), which is predicted to result in a frameshift with a premature termination codon (p.L998fsX1062). This result supports the use of a candidate-gene-based strategy to study the genetic basis for AI."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.org/dc/terms/identifier | "doi:10.1177/0022034509333180"xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Kim J.W."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Kang H.Y."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Lee S.K."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Lee K.E."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Patir A."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Seymen F."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Tuna E.B."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/author | "Yildirim M."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/name | "J Dent Res"xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/pages | "266-269"xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/title | "Candidate gene strategy reveals ENAM mutations."xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://purl.uniprot.org/core/volume | "88"xsd:string |
| http://purl.uniprot.org/citations/19329462 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19329462 |
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