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Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes
Heterozygous chromosomal inversions suppress recombination. Therefore, they may potentially influence recombination-associated phenotypes of human diseases, but no studies have verified this hypothesis. Here, we describe a 35-year-old man with severe congenital ichthyosis. Mutation analysis revealed...
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| Publicado no: | JCI Insight |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5926924/ https://ncbi.nlm.nih.gov/pubmed/29563344 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.97595 |
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