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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Hlavní autoři: Ganster, Christina, Wernstedt, Annekatrin, Kehrer-Sawatzki, Hildegard, Messiaen, Ludwine, Schmidt, Konrad, Rahner, Nils, Heinimann, Karl, Fonatsch, Christa, Zschocke, Johannes, Wimmer, Katharina
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup: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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