| http://purl.uniprot.org/citations/22608501 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22608501 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22608501 | http://www.w3.org/2000/01/rdf-schema#comment | "We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum LOD scores of 3.07 and 2.97 were found on chromosomes 7 and 17, respectively. Unexpectedly, we found these siblings to be homozygous for a c.813_816del (p.Thr272Serfs∗10) mutation in the progranulin gene (GRN, granulin precursor) in the latter peak. Heterozygous mutations in GRN are a major cause of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP), the second most common early-onset dementia. Reexamination of progranulin-deficient mice revealed rectilinear profiles typical of NCL. The age-at-onset and neuropathology of FTLD-TDP and NCL are markedly different. Our findings reveal an unanticipated link between a rare and a common neurological disorder and illustrate pleiotropic effects of a mutation in the heterozygous or homozygous states."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.04.021"xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.04.021"xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Lewis J."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Lewis J."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Dickson D.W."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Dickson D.W."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Morbin M."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Morbin M."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Rossi G."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Rossi G."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Lin W.L."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Lin W.L."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Bahlo M."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Bahlo M."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Carpenter S."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Carpenter S."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Dahl H.H."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Dahl H.H."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Pareyson D."xsd:string |
| http://purl.uniprot.org/citations/22608501 | http://purl.uniprot.org/core/author | "Pareyson D."xsd:string |