| http://purl.uniprot.org/citations/11791207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11791207 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11791207 | http://www.w3.org/2000/01/rdf-schema#comment | "The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurodegenerative disease that features blindness, seizures, and cognitive decline, maps to 15q21-23. We have used multiallele markers spanning this approximately 4-Mb candidate interval to reveal a core haplotype, shared in Costa Rican families with vLINCL but not in a Venezuelan kindred, that highlighted a region likely to contain the CLN6 defect. Systematic comparison of genes from the minimal region uncovered a novel candidate, FLJ20561, that exhibited DNA sequence changes specific to the different disease chromosomes: a G-->T transversion in exon 3, introducing a stop codon on the Costa Rican haplotype, and a codon deletion in exon 5, eliminating a conserved tyrosine residue on the Venezuelan chromosome. Furthermore, sequencing of the murine homologue in the nclf mouse, which manifests recessive NCL-like disease, disclosed a third lesion-an extra base pair in exon 4, producing a frameshift truncation on the nclf chromosome. Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.org/dc/terms/identifier | "doi:10.1086/338190"xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.org/dc/terms/identifier | "doi:10.1086/338190"xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Gao H."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Gao H."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Liu S."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Liu S."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Qin X."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Qin X."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Lerner T.J."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Lerner T.J."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Bronson R.T."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Bronson R.T."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Donahue L.R."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Donahue L.R."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Haines J.L."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Haines J.L."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "MacDonald M.E."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "MacDonald M.E."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Boustany R.-M.N."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Boustany R.-M.N."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Antonellis K.A."xsd:string |
| http://purl.uniprot.org/citations/11791207 | http://purl.uniprot.org/core/author | "Antonellis K.A."xsd:string |