A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

Autor: Ki CS; Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, #50 Ilwon-Dong, Kangnam-Gu, Seoul 135-710, Korea., Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW

Publikováno v: Journal of human genetics [J Hum Genet] 2002; Vol. 47 (9), pp. 473-7.