Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease - Rainier, Shirley; Bui, Melanie; Mark, Erin; Thomas, Donald; Tokarz, Debra; Ming, Lei; Delaney, Colin; Richardson, Rudy J.; Albers, James W.; Matsunami, Nori; Stevens, Jeff; Coon, Hilary; et al. (American journal of human genetics, 2008)
Keywords: Amino Acid Sequence; Axons - physiology; Biological and medical sciences; Brain diseases; Carboxylic Ester Hydrolases - genetics; Cerebrospinal fluid. Meninges. Spinal cord; Chromosome Mapping; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Linkage; Genetics of eukaryotes. Biological and molecular evolution; Humans; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Motor Neuron Disease - genetics; Mutation; Nervous system (semeiology, syndromes); Neurology; Neurons; Pedigree; Polymorphism; Human; Nervous system diseases; Enzyme; Motor neuron disease; Esterases; Neuropathy; Gene; Central nervous system disease; Hydrolases; Genetics; Degenerative disease; Mutation; Spinal cord disease