Article
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
Human reproduction (Oxford, England) - 1 Aug 2012
Coutton Charles, Zouari Raoudha, Abada Farid, Ben Khelifa Mariem, Merdassi Ghaya, Triki Chema, Escalier Denise, Hesters Laetitia, Mitchell Valérie, Levy Rachel, Sermondade Nathalie, Boitrelle Florence, Vialard François, Satre Véronique, Hennebicq Sylviane, Jouk Pierre-Simon, Arnoult Christophe, Lunardi Joël, Ray Pierre F
Abstract excerpt
STUDY QUESTION: Do DPY19L2 heterozygous deletions and point mutations account for some cases of globozoospermia? SUMMARY ANSWER: Two DPY19L2 heterozygous deletions and three point mutations were identified, thus further confirming that genetic alterations of the DPY19L2 gene are the main cause of globozoospermia and indicating that DPY19L2 molecular diagnostics should not be stopped in the absence of a homozygous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.