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Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

We have studied the patterns of mutation and X inactivation in female carriers of a fragile X mutation, to try to correlate them with various phenotypic features. We used a simple assay, which shows simultaneously the size of the mutation, its methylation status, and DNA fragments that represent the...

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Detalles Bibliográficos
Publicado en:J Med Genet
Autores principales: Rousseau, F, Heitz, D, Oberlé, I, Mandel, J L
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 1991
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Acceso en línea:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017159/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1757958/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.12.830
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