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X chromosome inactivation and the diagnosis of X linked disease in females.
In studies of female patients with suspected deficiency of the E1 alpha subunit of the pyruvate dehydrogenase complex, we have found that X inactivation ratios of 80:20 or greater occur at sufficient frequency in cultured fibroblasts to make exclusion of the diagnosis impossible in about 25% of case...
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| Publicado no: | J Med Genet |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1993
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016294/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8097254/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.3.177 |
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