| http://purl.uniprot.org/citations/22503633 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22503633 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22503633 | http://www.w3.org/2000/01/rdf-schema#comment | "Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.03.006"xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.03.006"xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Collins F."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Collins F."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Silva E."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Silva E."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Hanein S."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Hanein S."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Gerber S."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Gerber S."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Kaplan J."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Kaplan J."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Perrault I."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Perrault I."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Salih M.A."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Salih M.A."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Le Merrer M."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Le Merrer M."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |
| http://purl.uniprot.org/citations/22503633 | http://purl.uniprot.org/core/author | "Antignac C."xsd:string |