NDLI: Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation

Content Provider	Semantic Scholar
Author	Larner, Andrew J.
Copyright Year	2009
Abstract	Two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) resulting from the microtubule associated protein tau (MAPT) gene IVS10+16C>T splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. Possible explanations for the intra- and interfamilial clinical heterogeneity associated with this MAPT mutation are discussed.
Starting Page	253
Ending Page	256
Page Count	4
File Format	PDF HTM / HTML
DOI	10.1016/j.jns.2009.08.063
PubMed reference number	19766248
Journal	Medline
Volume Number	287
Alternate Webpage(s)	https://api.elsevier.com/content/article/pii/S0022510X09008417
Alternate Webpage(s)	https://www.sciencedirect.com/science/article/pii/S0022510X09008417?dgcid=api_sd_search-api-endpoint
Alternate Webpage(s)	https://doi.org/10.1016/j.jns.2009.08.063
Journal	Journal of the Neurological Sciences
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation