Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Rachel Straussberg, Alexandros Onoufriadis*, Osnat Konen, Yasmin Zouabi, Lior Cohen, John Y.W. Lee, Chao Kai Hsu, Michael A. Simpson, John A. McGrath

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology