Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Am J Med Genet A. 2017 Nov; 173(11):3109-3113.