| http://purl.uniprot.org/citations/11768226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11768226 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial dysautonomia is a severe autosomal-recessive neurodegenerative disease that primarily affects the Ashkenazi Jewish population. We present the mapping of alpha-catulin and show that it maps precisely to the familial dysautonomia candidate region on 9q31. Patient sequence analysis identified two new sequence variants, which show linkage disequilibrium with this disease. A G to A transition at nucleotide 423 in exon 3 is a silent base change that does not alter the Val residue at position 141. A G to C transversion at nucleotide 1579 changes the Glu at postion 527 to Gln. These base changes were analyzed in several patients, unaffected Ashkenazi Jewish controls, and non-Jewish controls. Because of the presence of these sequence variants in several unaffected individuals, alpha-catulin is unlikely to be the causative gene in this disease."xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.org/dc/terms/identifier | "doi:10.1139/g01-103"xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/author | "Ray P.N."xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/author | "Demacio P.C."xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/name | "Genome"xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/pages | "990-994"xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/title | "Alpha-catulin maps to the familial dysautonomia region on 9q31."xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://purl.uniprot.org/core/volume | "44"xsd:string |
| http://purl.uniprot.org/citations/11768226 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11768226 |
| http://purl.uniprot.org/citations/11768226 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11768226 |
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| http://purl.uniprot.org/uniprot/#_B2RBI4-mappedCitation-11768226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11768226 |
| http://purl.uniprot.org/uniprot/#_Q9UBT7-mappedCitation-11768226 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11768226 |
| http://purl.uniprot.org/uniprot/Q9UBT7 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11768226 |
| http://purl.uniprot.org/uniprot/B3KMX6 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11768226 |
| http://purl.uniprot.org/uniprot/B2RBI4 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/11768226 |