LAUSR

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

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0 Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23359

Abstract: Hereditary spastic paraplegia (HSP) is an inherited disorder of the central nervous system mainly characterized by gradual spasticity and weakness of the lower limbs. SPG56 is a rare autosomal recessive early onset complicated form of… read more here.

Keywords: cyp2u1 activity; hereditary spastic; missense variants; spastic paraplegia ... See more keywords