| http://purl.uniprot.org/citations/12629250 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12629250 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12629250 | http://www.w3.org/2000/01/rdf-schema#comment | "The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese founding haplotype. Patients 2 and 3 were French siblings and did not present with either OMA or hypoalbuminemia. They were compound heterozygous for the nonsense W279X mutation and a missense K197Q mutation."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000048562.88536.a4"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.org/dc/terms/identifier | "doi:10.1212/01.wnl.0000048562.88536.a4"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Warter J.-M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Warter J.-M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Koenig M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Koenig M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Tranchant C."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Tranchant C."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Fleury M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Fleury M."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Moreira M.-C."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/author | "Moreira M.-C."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/pages | "868-870"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/pages | "868-870"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/title | "Phenotypic variability of aprataxin gene mutations."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/title | "Phenotypic variability of aprataxin gene mutations."xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/volume | "60"xsd:string |
| http://purl.uniprot.org/citations/12629250 | http://purl.uniprot.org/core/volume | "60"xsd:string |