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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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Nomura, Toshifumi, Suzuki, Shotaro, Miyauchi, Toshinari, Takeda, Masae, Shinkuma, Satoru, Fujita, Yasuyuki, Nishie, Wataru, Akiyama, Masashi, Shimizu, Hiroshi
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2018
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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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