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Showing 1–3 of 3 results
Advanced filters: Author: Eileen Lange Clear advanced filters

  • Whole-exome analysis of individuals with developmental disorders shows that de novo mutations can equally cause loss or altered protein function, but that most mutations causing altered protein function have not yet been described.

    • Jeremy F. McRae
    • Stephen Clayton
    • Matthew E. Hurles
    Research
    Nature
    Volume: 542, P: 433-438

  • Melorheostosis is characterized by bone overgrowth and associated with pain and functional impairment. Here, the authors use whole exome sequencing to identify somatic mutations in MAP2K1 in affected bone of melorheostosis patients which is associated with increased proliferation but delayed differentiation of cultured osteoblasts.

    • Heeseog Kang
    • Smita Jha
    • Timothy Bhattacharyya
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-12