Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

Authors :: Bidichandani SI
Ashizawa T
Patel PI
Source :: American journal of human genetics [Am J Hum Genet] 1997 May; Vol. 60 (5), pp. 1251-6.
Publication Year :: 1997

Subjects :: Adult
Amino Acid Sequence
Chromosome Mapping
Conserved Sequence
Female
Humans
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Sequence Homology, Amino Acid
Frataxin
Friedreich Ataxia etiology
Heterozygote
Iron-Binding Proteins
Mutation
Phosphotransferases (Alcohol Group Acceptor) genetics
Trinucleotide Repeats

Tools