| http://purl.uniprot.org/citations/22065524 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22065524 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22065524 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these overlapping phenotypes. Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive form of ataxia caused by mutations in the SETX gene. We report on a consanguineous family with autosomal recessive inheritance and clinical characteristics of AOA2, and no mutations in the SETX gene. We mapped the AOA locus in this family to chromosome 17p12-p13. Sequencing of all genes in the refined region identified a homozygous missense mutation in PIK3R5 that was absent in 477 normal controls. Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21650"xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21650"xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Ahmed H."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Ahmed H."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bohlega S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bohlega S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bavi P."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bavi P."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bobis S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Bobis S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Shinwari J."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Shinwari J."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Abduljaleel Z."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Abduljaleel Z."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Abu Dhaim N."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Abu Dhaim N."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Alahmed S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Alahmed S."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Khalil D."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Khalil D."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Magrashi A."xsd:string |
| http://purl.uniprot.org/citations/22065524 | http://purl.uniprot.org/core/author | "Magrashi A."xsd:string |