| http://purl.uniprot.org/citations/12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12919135 | http://www.w3.org/2000/01/rdf-schema#comment | "Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we describe a ninth ALS2 mutation, in two siblings affected by infantile-onset ascending spastic paraplegia with bulbar involvement. This mutation is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene. It is probable that full-length alsin is required for the proper development and/or functioning of upper motor neurons."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.org/dc/terms/identifier | "doi:10.1034/j.1399-0004.2003.00138.x"xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Rouleau G.A."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Hayden M.R."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Lerman-Sagie T."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Devon R.S."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Helm J.R."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Lev D."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/author | "Leitner Y."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/pages | "210-215"xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/title | "The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings."xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://purl.uniprot.org/core/volume | "64"xsd:string |
| http://purl.uniprot.org/citations/12919135 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/12919135 |
| http://purl.uniprot.org/citations/12919135 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/12919135 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z5I4-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z5Q7-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_A0A2X0SFA0-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_A8K4R4-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_B3KPJ0-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_Q6IQ41-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/#_Q96Q42-mappedCitation-12919135 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/12919135 |
| http://purl.uniprot.org/uniprot/Q96Q42 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/12919135 |