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Azoospermia affects up to 1% of adult men. Non‐obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy‐number variations (CNVs) have been identified in patients with non‐obstructive azoospermia. The aim of this study was to clarify the contribution of nucleotide substitutions in known causative...
Objective: To clarify the molecular basis of hypogonadotropic hypogonadism (HH). Design: Genome-wide copy number analysis by array-based comparative genomic hybridization and systematic mutation screening of 29 known causative genes by next-generation sequencing, followed by in silico functional assessment and messenger RNA/DNA analyses of the mutants/variants. Setting: Research institute. Patient(s):...
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