| http://purl.uniprot.org/citations/23375655 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23375655 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23375655 | http://www.w3.org/2000/01/rdf-schema#comment | "A combination of autozygosity mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralized amelogenesis imperfect a (AI), a condition in which tooth enamel formation fails. SLC24A4 encodes a calcium transporter upregulated in ameloblasts during the maturation stage of amelogenesis. Screening of further AI families identified a missense mutation in the ion-binding site of SLC24A4 expected to severely diminish or abolish the ion transport function of the protein. Furthermore, examination of previously generated Slc24a4 null mice identified a severe defect in tooth enamel that reflects impaired amelogenesis. These findings support a key role for SLC24A4 in calcium transport during enamel formation."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.01.003"xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.01.003"xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Parry D.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Parry D.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Zhao H."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Zhao H."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Poulter J.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Poulter J.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Johnson C.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Johnson C.A."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Inglehearn C.F."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Inglehearn C.F."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Jafri H."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Jafri H."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Logan C.V."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Logan C.V."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Rashid Y."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Rashid Y."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Brookes S.J."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Brookes S.J."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Mighell A.J."xsd:string |
| http://purl.uniprot.org/citations/23375655 | http://purl.uniprot.org/core/author | "Mighell A.J."xsd:string |