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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.

We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombination (NAHR) between two homologous 28-Kb Low Copy Re...

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Hlavní autoři: Charles Coutton, Farid Abada, Thomas Karaouzene, Damien Sanlaville, Véronique Satre, Joël Lunardi, Pierre-Simon Jouk, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science (PLoS) 2013-03-01
Edice:PLoS Genetics
On-line přístup:http://europepmc.org/articles/PMC3605140?pdf=render
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