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Hindle, Samantha Hindle
Saposin deficiency is a lysosomal storage disorder (LSD) characterised by the lysosomal accumulation of sphingolipids. The disorder is caused by mutations in the prosaposin gene, which encodes 4 activator proteins: saposins A - D. Mutations affecting
Externí odkaz:
http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.535040
