A novel missense mutation (L198R) in the Friedreich's ataxia gene.
Al-Mahdawi
S
S
Imperial College School of Science, Technology and Medicine, London, UK.
Pook
M
M
Chamberlain
S
S
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
D001120:Arginine; D007930:Leucine