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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders
Human Molecular Genetics, 11/25/09
Clark AR et al. – The data provide the first biochemical evidence for a gain–of–function mechanism for the OPD disorders, and mechanistically distinguishes them from the loss–of–function phenotypes that manifest as disorders of neuronal migration.
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