| http://purl.uniprot.org/citations/20137773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20137773 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20137773 | http://www.w3.org/2000/01/rdf-schema#comment | "The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide pyrophosphatase/phosphodiesterase) in members of four families affected with hypophosphatemic rickets. We provide evidence for the conclusion that ENPP1 is the fourth gene-in addition to PHEX, FGF23, and DMP1-that, if mutated, causes hypophosphatemic rickets resulting from elevated FGF23 levels. Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.006"xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.006"xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Schnabel D."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Schnabel D."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Tiosano D."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Tiosano D."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Lorenz-Depiereux B."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Lorenz-Depiereux B."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Hausler G."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/author | "Hausler G."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/pages | "267-272"xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/pages | "267-272"xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/title | "Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/title | "Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets."xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/20137773 | http://purl.uniprot.org/core/volume | "86"xsd:string |