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For disorders in which the defective gene is known, a combination of mutation analysis and biosynthetic studies is used to understand the mechanisms by which the mutations arise, the inheritance pattern of each disorder, and the effect of each mutation of the synthesis, structure, and function of the encoded protein

143 (Washington, DC: THE NATIONAL ACADEMIES PRESS)

Moreover, patient heterogeneity in age, comorbidities, and genetic background underscores the need for personalized approaches and biomarker-guided interventions

Through this approach, we aimed to clarify the timing and nature of CF resistanceassociated molecular features and to explore the potential clinical value of pretreatment molecular profiling for optimizing NAC strategies in EC