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Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotype
Autosomal recessive diseases are those that require mutations in both alleles to exhibit the disorder. Although most recessive conditions are rare, heterozygous carriers of recessive mutations are quite common. In this study, we show that carriers of Nijmegen Breakage Syndrome (NBS) have a distinct...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2006
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1524869/ https://ncbi.nlm.nih.gov/pubmed/16809669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.5320706 |
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