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Gene Expression Phenotype in Heterozygous Carriers of Ataxia Telangiectasia

The defining characteristic of recessive diseases is the absence of a phenotype in the heterozygous carriers. Nonetheless, subtle manifestations may be detectable by new methods, such as expression profiling. Ataxia telangiectasia (AT) is a typical recessive disease, and individual carriers cannot b...

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Detalles Bibliográficos
Publicado en:Am J Hum Genet
Principais autores: Watts, Jason A., Morley, Michael, Burdick, Joshua T., Fiori, Jennifer L., Ewens, Warren J., Spielman, Richard S., Cheung, Vivian G.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2002
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Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC378536/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12226795/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/342974
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