Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene
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Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects
2021, Biochimica et Biophysica Acta - Proteins and ProteomicsGerm line mutations associated with breast cancer susceptibility
2001, European Journal of CancerCitation Excerpt :Following PCR amplification, DNA fragments are denatured and electrophoresed through a non-denaturing polyacrylamide gel, migration being determined by secondary structure, which is in turn determined by base composition. The sensitivity of SSCP is dependent on the size of the amplified fragment and is estimated to be between 70 and 95% in PCR products of 200 base pairs or less [38], decreasing to 50% when fragments larger than 400 base pairs are analysed. HDA relies on the formation of heteroduplexes between wild-type and mutant DNA strands during the late cycles of the PCR.
Heterogeneity in ornithine cytotoxicity of bovine retinal pigment epithelial cells in primary culture
2000, Experimental Eye ResearchMCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency
1999, Journal of Biological Chemistry
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