| http://purl.uniprot.org/citations/29748150 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29748150 | http://www.w3.org/2000/01/rdf-schema#comment | "To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM2 R47C mutation in a patient with behavioral variant FTD without bone cysts or bone-associated phenotype. Two novel nonsense GRN mutations in 3 FTD patients from the Philippines were detected, but no known pathogenic mutations in other FTD-associated genes were found. In 45 subjects screened for C9orf72 repeat expansions, no pathogenic expansion (≥30 repeats) was identified, but there was a higher proportion of intermediate length (≥10-29 repeats) alleles in patients compared with controls (8/90 alleles, 8.9% vs. 9/164 alleles, 5.5%). Overall, we detected a mutation rate of 7.7% (4/52 patients) in our cohort. Given recent findings of enrichment of rare TREM2 variants (including R47C) in Alzheimer's disease, it is notable that we detected a homozygous TREM2 R47C carrier presenting with an FTD rather than an Alzheimer's disease phenotype."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.neurobiolaging.2018.04.003"xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Ng E."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Tan Y.J."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Tan E.K."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Foo J.N."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Dominguez J."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Yi Z."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Chew E."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Hameed S."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Ting S."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Kandiah N."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Ng A.S.L."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Macas M."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/author | "Tandiono M."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/name | "Neurobiol Aging"xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/pages | "160.e15-160.e19"xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/title | "Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement."xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://purl.uniprot.org/core/volume | "68"xsd:string |
| http://purl.uniprot.org/citations/29748150 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29748150 |
| http://purl.uniprot.org/citations/29748150 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29748150 |
| http://purl.uniprot.org/uniprot/#_E3WHI5-mappedCitation-29748150 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29748150 |
| http://purl.uniprot.org/uniprot/#_Q5TCX1-mappedCitation-29748150 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29748150 |