A Novel NKAP Gene Frameshift Mutation in a Sardinian Family Causes Early Cell Death and Secondary Skewed X-Chromosome Inactivation and Associates with Multiple Male Miscarriages
It is demonstrated that this novel NKAP frameshift variant causes early cell death and post-mitotic negative selection of mutant cells, resulting in a fully secondary XCI, whereas female carriers are healthy and fertile, whereas affected males are likely nonviable.
M. Mietto, M. Falzarano, A. Armaroli et al.
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