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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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Brown, R M, Brown, G K
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1993
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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