Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma
Zhou S, Jiang X, Zhu Y, Yang J, Yuan C, Chen M, Zhou Q, Lin Z, Li M. Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma. Experimental Dermatology 2023, 32: 699-706. PMID: 36811447, DOI: 10.1111/exd.14774.Peer-Reviewed Original ResearchConceptsLanosterol synthaseBiallelic mutationsLanosterol synthase genesPalmoplantar keratodermaPartial enzymatic activityHeterogeneous genetic diseaseExpression levelsMutilating palmoplantar keratodermaPathway of cholesterolBiosynthesis pathwayReduced expression levelsBiallelic variantsWild typeEnzymatic activityGenetic diseasesAutosomal-recessiveGenetic counselingMutationsMolecular characteristicsThin layer chromatographyLayer chromatographyMutantsBiosynthesisMale patientsChinese patients
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply