Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation‐dependent probe amplification
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DOI: 10.1111/and.13761
Abstract: Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y microdeletions in infertile men and also to access the frequency… read more here.
Keywords: 370 infertile; study; infertile men; ligation dependent ... See more keywords
Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia
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DOI: 10.2169/internalmedicine.9412-22
Abstract: Familial hypercholesterolemia (FH) is an autosomaldominant hereditary lipid disorder, which can eventually cause the premature coronary artery disease (CAD). Recently, FH has been recognized as relatively common disease due to its prevalence (1 in 250-300… read more here.
Keywords: probe amplification; ligation dependent; genetic testing; whole exome ... See more keywords