Article
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Metabolic brain disease - 1 Apr 2018
Agrahari Ashish Kumar, Sneha P, George Priya Doss C, Siva R, Zayed Hatem
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an essential enzyme in the primary stage of de novo and salvage nucleotide synthesis. The mutations in the PRPS1 gene leads to X-linked...
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