Propensity for paternal inheritance of de novo mutations in Alexander disease

  title={Propensity for paternal inheritance of de novo mutations in Alexander disease},
  author={Rong Li and Anne B. Johnson and Gajja Sophi Salomons and Marjo S. van der Knaap and Diana Rodr{\'i}guez and Odile Boespflug-Tanguy and J. Rafael M. Gorospe and James E. Goldman and Albee Messing and Michael Brenner},
  journal={Human Genetics},
De novo dominant mutations in the GFAP gene have recently been associated with nearly all cases of Alexander disease, a rare but devastating neurological disorder. These heterozygous mutations must occur very early in development and be present in nearly all cells in order to be detected by the sequencing methods used. To investigate whether the mutations may have arisen in the parental germ lines, we determined the parental chromosome bearing the mutations for 28 independent Alexander disease… CONTINUE READING


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