期刊
NEURODEGENERATIVE DISEASES
卷 3, 期 3, 页码 129-133出版社
KARGER
DOI: 10.1159/000094771
关键词
frontotemporal dementia; chromosome 3; MAPT; CHMP2B
资金
- Medical Research Council [G0701075, G0400074, G0502157] Funding Source: Medline
- NINDS NIH HHS [K08-NS14108] Funding Source: Medline
- MRC [G0400074, G0502157] Funding Source: UKRI
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [Z01NS003023] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [Z01AG000951] Funding Source: NIH RePORTER
A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed. Copyright (c) 2006 S. Karger AG, Basel.
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