https://www.selleckchem.com/products/tph104m.html
To date, 61 patients are described, harbouring 32 different pathogenic variants in four distinct complex II genes three structural subunit genes (SDHA, SDHB and SDHD) and one assembly factor gene (SDHAF1). Many pathogenic variants result in a null allele due to nonsense, frameshift or splicing defects however, the missense variants that do occur tend to induce substitutions at highly conserved residues in regions of the proteins that are critical for binding to other subunits or substrates. There is phenotypic heterogeneity associated w
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