Pak J Med Sci
The most recent articles from:
Pak J Med Sci
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Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. ⋯ This is the first report of genetic demographic assessment of Niemann-Pick disease in Pakistan. The mapped mutations would be helpful to build a disease variants algorithm of Pakistani population. This will be used for determining disease clinical magnitude along with provision of genetic screening services in affected families.