volume 198, issue 4, P669-675 2003
DOI: 10.1084/jem.20030027
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Juha Paloneva, Jami Mandelin, Anna Kiialainen, Tom Böhling, Johannes Prudlo, Panu Hakola, Matti Haltia, Yrjö T. Konttinen, Leena Peltonen

Abstract: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease. PLOSL is characterized by cystic bone lesions, osteoporotic features, and loss of white matter in the brain leading to spontaneous bone fractures and profound presenile dementia. We have earlier characterized the molecular genetic background of PLOSL by identifying mutations in two genes, DAP12 and TREM2. DAP12 is a transmembrane adaptor protein tha…

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