| http://purl.uniprot.org/citations/9254849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9254849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9254849 | http://www.w3.org/2000/01/rdf-schema#comment | "Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by congenital ichthyosis, spastic di- or tetraplegia, and mental retardation. SLS has been reported to occur in many populations but the highest incidence is in the north of Sweden. The gene causing SLS encodes a fatty aldehyde dehydrogenase (FALDH). In the present study, a point mutation in exon 7 of the FALDH gene was found in SLS patients of northern Swedish origin. The mutation consists of a C-to-T exchange at nucleotide position 943 in the cDNA. As a consequence, a highly conserved proline is replaced by a serine. The mutation was found in 49 out of 58 affected chromosomes and could be the most widely spread SLS mutation in the world."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050490"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.org/dc/terms/identifier | "doi:10.1007/s004390050490"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Wadelius C."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Wadelius C."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Jagell S."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Jagell S."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Sillen A."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/author | "Sillen A."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/pages | "201-203"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/pages | "201-203"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/title | "A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/title | "A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden."xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/volume | "100"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://purl.uniprot.org/core/volume | "100"xsd:string |
| http://purl.uniprot.org/citations/9254849 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9254849 |
| http://purl.uniprot.org/citations/9254849 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9254849 |
| http://purl.uniprot.org/citations/9254849 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9254849 |
| http://purl.uniprot.org/citations/9254849 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9254849 |