| http://purl.uniprot.org/citations/11179021 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11179021 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11179021 | http://www.w3.org/2000/01/rdf-schema#comment | "The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA encoding the IkappaB kinase complex-associated protein (IKAP) lacks exon 20 and, as a result of a frameshift, encodes a truncated protein. Sequence analysis reveals a T-->C transition in the donor splice site of intron 20. In individuals bearing a minor FD haplotype, a missense mutation in exon 19 disrupts a consensus serine/threonine kinase phosphorylation site. This mutation results in defective phosphorylation of IKAP. These mutations were observed to be present in a random sample of Ashkenazi Jewish individuals, at approximately the predicted carrier frequency of FD. These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.org/dc/terms/identifier | "doi:10.1086/318808"xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.org/dc/terms/identifier | "doi:10.1086/318808"xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Ekstein J."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Ekstein J."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Anderson S.L."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Anderson S.L."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Coli R."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Coli R."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Daly I.W."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Daly I.W."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Kichula E.A."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Kichula E.A."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Rork M.J."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Rork M.J."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Rubin B.Y."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Rubin B.Y."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Volpi S.A."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/author | "Volpi S.A."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/11179021 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |