Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

Abstract excerpt

BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal...

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