A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
Donnelly
A
A
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, South Australia.
Colley
A
A
Crimmins
D
D
Mulley
J
J
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
D005819:Genetic Markers; D018991:Myelin Proteolipid Protein