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Are de novo mutations in the human genome associated with male infertility? We identified de novo mutations in five candidate genes SEMA5A, NEURL4, BRD2, CD1D, and CD63. Epidemiological and genetic studies have consistently indicated contribution of genetic factors to the etiology of male infertility, suggesting that more than 1500 genes are involved in spermatogenesis. First, we searched for de novo mutations in patients with idiopathic azoospermia with whole-exome sequencing (WES). To evaluate the potential functional impact of de nov
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