Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Abstract
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.Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs).The following pre-requisites were met: each...
Paper Details
Title
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Published Date
Apr 1, 2017
Journal
Volume
48
Issue
3
Pages
263 - 269
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