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Keywords: Spastic paraplegia 8
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Journal Articles
Dis Model Mech (2018) 11 (9): dmm033449.
Published: 13 September 2018
.... The N471D and several other point mutations of human strumpellin (Str; also known as WASHC5), a member of the Wiskott–Aldrich syndrome protein and SCAR homologue (WASH) complex, have been shown to cause a form of HSP known as spastic paraplegia 8 (SPG8). To investigate the molecular functions of wild-type...
Includes: Supplementary data