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Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

We have previously reported functional disomy for X-linked genes in females with tiny ring X chromosomes and a phenotype significantly more abnormal than Turner syndrome. In such cases the disomy results from failure of these X chromosomes to inactivate because they lack DNA sequences essential for...

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Autors principals: Migeon, B. R., Jeppesen, P., Torchia, B. S., Fu, S., Dunn, M. A., Axelman, J., Schmeckpeper, B. J., Fantes, J., Zori, R. T., Driscoll, D. J.
Format: Artigo
Idioma:Inglês
Publicat: 1996
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914932/
https://ncbi.nlm.nih.gov/pubmed/8554052
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