Loss-of-function mutations in Experience Z Y
Paper in Nature Genetics by Paloneva et al describing the discovery of the genetic defect causing Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.Feel free to add your comment or post!
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Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
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nature.com/ng/journal/v25/n3/ful
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