title: A novel missense mutation (L198R) in the Friedreich's ataxia gene.
authors.affiliation: Imperial College School of Science, Technology and Medicine, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Al-Mahdawi
authors.forename: M
authors.initials: M
authors.lastname: Pook
authors.forename: S
authors.initials: S
authors.lastname: Chamberlain
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D005621:Friedreich Ataxia / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
chemical_list: D001120:Arginine; D007930:Leucine