Article
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Human reproduction (Oxford, England) - 1 Nov 2012
Ben Khelifa Mariem, Coutton Charles, Blum Michael G B, Abada Farid, Harbuz Radu, Zouari Raoudha, Guichet Agnès, May-Panloup Pascale, Mitchell Valérie, Rollet Jacques, Triki Chema, Merdassi Ghaya, Vialard François, Koscinski Isabelle, Viville Stéphane, Keskes Leila, Soulie Jean Pierre, Rives Nathalie, Dorphin Béatrice, Lestrade Florence, Hesters Laeticia, Poirot Catherine, Benzacken Brigitte, Jouk Pierre-Simon, Satre Véronique, Hennebicq Sylviane, Arnoult Christophe, Lunardi Joël, Ray Pierre F
Abstract excerpt
STUDY QUESTION: Can we identify new sequence variants in the aurora kinase C gene (AURKC) of patients with macrozoospermia and establish a genotype-phenotype correlation? SUMMARY ANSWER: We identified a new non-sense mutation, p.Y248*, that represents 13% of all mutant alleles. There was no difference in the phenotype of individuals carrying this new mutation versus the initially described and main mutation...
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