title: Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.
authors.affiliation: Department of Neurology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, People's Republic of China.
authors.forename: Fei
authors.initials: F
authors.lastname: Xie
authors.forename: Zhi-Dong
authors.initials: ZD
authors.lastname: Cen
authors.forename: Jian-Feng
authors.initials: JF
authors.lastname: Xiao
authors.forename: Wei
authors.initials: W
authors.lastname: Luo
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D035781:Siblings; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors