A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
Sign Up to like & getrecommendations! Published in 2017 at "Metabolic Brain Disease"
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
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000563
Abstract: Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD. read more here.
Keywords: complex linked; gene mutation; linked adult; causes complex ... See more keywords