TY  - GEN
AU  - McCabe,Dominick J H
AU  - Wood,Nicholas W
AU  - Ryan,Fergus
AU  - Hanna,Michael G
AU  - Connolly,Sean
AU  - Moore,David P
AU  - Redmond,Janice
AU  - Barton,David E
AU  - Murphy,Raymond P
TI  - Intrafamilial phenotypic variability in Friedreich ataxia associated with a G130V mutation in the FRDA gene
SN  - 0003-9942
PY  - 2002///0228
KW  - Adaptor Proteins, Signal Transducing
KW  - Adult
KW  - Ataxia
KW  - etiology
KW  - Chromosomes, Human, Pair 9
KW  - genetics
KW  - Disease Progression
KW  - Female
KW  - Friedreich Ataxia
KW  - Humans
KW  - Male
KW  - Nerve Tissue Proteins
KW  - analysis
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Trinucleotide Repeats
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1001/archneur.59.2.296
ER  -