https://www.selleckchem.com/pr....oducts/dansylcadaver
Genetic analysis revealed segregation of several novel variants associated with HL, including a canonical splice-site variant (c.55-2AG) of PTPRQ in family GCFHL-01, a missense variant [c.1079GA; p.(Arg360Gln)] of SERPINB6 in family LUHL-01, and an insertion variant (c.10208-10211insCCACCAGGCCCGTGCCTC) within MYO15A in family LUHL-011. All the identified variants had very low frequencies in the control databases. The molecular modeling of p.Arg360Gln missense variant also predicted impaired folding
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