https://www.selleckchem.com/pr....oducts/heparan-sulfa
ecoming one of the comprehensive, inexpensive, and convenient tools for genetic diagnosis of CMT. Our findings link a novel PMP22 mutation with a clinical diagnosis of CMT3. The link between gene variation and CMT phenotype may help to reveal the structure and function of PMP22 protein and the pathogenesis of CMT. This study adds further support to the heterogeneity of PMP22 related CMT and provides solid functional evidence for the pathogenicity of the p.(L19delinsVLL) PMP22 variant. Moreover, with the development of high-throu
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