Additional file 1 of Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis
This Test Guideline describes an in vivo erythrocyte Pig-a gene mutation assay (hereafter called the Pig-a assay) which uses an endogenous mammalian gene, the phosphatidylinositol glycan class A gene
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For DHPLC analysis, Y indicates the presence of small but clear heteroduplex peaks, whereas N indicates the absence of such peaks. The question mark indicates the presence of ambiguous shoulder peaks.
Adaptation of duplex sequencing, an ultra-deep and highly accurate sequencing method to examine a fraction of the FGFR3 coding region in sperm DNA form older and younger donor groups. The ultimate goa