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Nature Genetics  25, 357 - 361 (2000)
doi:10.1038/77153

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts

Juha Paloneva, Marjo Kestilä, Jun Wu, Antti Salminen, Tom Böhling, Vesa Ruotsalainen, Panu Hakola, Alexander B.H. Bakker, Joseph H. Phillips, Petra Pekkarinen, Lewis L. Lanier, Tuomo Timonen & Leena Peltonen
 
Figure 1 thumbnailFigure 1.
TYROBP and DAP10, located in opposite transcriptional orientation on chromosome 19q13.1, and identified PLOSL mutations in TYROBP.

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 Figure 2 thumbnailFigure 2.
Northern (a) and western (b) analysis of TYROBP and DAP10 transcripts and corresponding polypeptides of patients carrying PLOSLFin mutations.

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Figure 3 thumbnailFigure 3.
Northern-blot analysis of TYROBP in multiple human tissues.

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 Table 1 thumbnailTable 1.
Clinical and histopathological features of PLOSL

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Table 2 thumbnailTable 2.
Number and function of NK cells

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