https://th5427inhibitor.com/sy....stematic-analysis-as
Mutations in PMP22, specifically frame-shift mutations (insertions or deletions), missense mutations, nonsense mutations, or splice-site disrupting mutations, can be causative factors for HNPP in some patients. We report a patient with HNPP, their diagnosis established through clinical features corroborated by nerve conduction study results. Fluorescence in situ hybridization did not reveal any deletions of PMP22. The direct nucleot
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