title: A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
authors.affiliation: Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia.
authors.forename: A
authors.initials: A
authors.lastname: Donnelly
authors.forename: A
authors.initials: A
authors.lastname: Colley
authors.forename: D
authors.initials: D
authors.lastname: Crimmins
authors.forename: J
authors.initials: J
authors.lastname: Mulley
mesh_terms: D002648:Child; D002874:Chromosome Mapping; D005091:Exons; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D017354:Point Mutation; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D018991:Myelin Proteolipid Protein