Cellular pathomechanisms in hereditary sensory neuropathy type 1
Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by missense mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first and rate-limiting step of de novo sphingolipid synt...
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University College London (University of London)
2017
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.747014 |