Functional PMS2 Hybrid Alleles Containing a Pseudogene-Specific Missense Variant Trace Back to a Single Ancient Intrachromosomal Recombination Event

Sequence exchange between PMS2 and its pseudogene PMS2CL, embedded in an inverted duplication on chromosome 7p22, has been reported to be an ongoing process that leads to functional PMS2 hybrid alleles containing PMS2- and PMS2CL-specific sequence variants at the 5′-and the 3′-end, respectively. The...

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Main Authors: Ganster, Christina, Wernstedt, Annekatrin, Kehrer-Sawatzki, Hildegard, Messiaen, Ludwine, Schmidt, Konrad, Rahner, Nils, Heinimann, Karl, Fonatsch, Christa, Zschocke, Johannes, Wimmer, Katharina
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341089/
https://ncbi.nlm.nih.gov/pubmed/20186689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21223
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