A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
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DOI: 10.1007/s11011-017-0121-2
Abstract: 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… read more here.
Keywords: disease causing; causing mutations; study; disease ... See more keywords