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Major spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans

28 Mar 2016

Abstract excerpt

Processing of pre-mRNA into mRNA is an important regulatory mechanism in eukaryotes that is mediated by the spliceosome, a huge and dynamic ribonucleoprotein complex. Splicing defects are implicated in a spectrum of human disease, but the underlying mechanistic links remain largely unresolved. Using a genome-wide association approach, we have recently identified single nucleotide polymorphisms in humans that...

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PMID: 27035939
DOI: 10.1073/pnas.1513682113

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