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• W2077135767 startingPage "301" @default.
• W2077135767 abstract "For many human genetic diseases, the underlying genetic defect has been determined. Thus, although traditionally a field only for researchers in medicine or human genetics, human diseases are now opening up to molecular biologists, cell biologists and biochemists. Here we discuss four human genetic disorders, Familial Alzheimer's disease, Rett syndrome, Klippel-Trenaunay syndrome and Facioscapulohumeral muscular dystrophy, and how investigations into these diseases are providing important lessons about human biology." @default.
• W2077135767 created "2016-06-24" @default.
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• W2077135767 date "2004-06-01" @default.
• W2077135767 modified "2023-10-06" @default.
• W2077135767 title "When enough is enough: genetic diseases associated with transcriptional derepression" @default.
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• W2077135767 doi "https://doi.org/10.1016/j.gde.2004.04.010" @default.
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