Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.
Stevanin
G
G
INSERM U289, Hôpital de la Salpêtrière, Paris, France.
Cassa
E
E
Cancel
G
G
Abbas
N
N
Dürr
A
A
Jardim
E
E
Agid
Y
Y
Sousa
P S
PS
Brice
A
A
D000328:Adult; D000368:Aged; D000067699:Ataxin-3; D001938:Brazil; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D017827:Machado-Joseph Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011174:Portugal; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins; D018911:Trinucleotide Repeats
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3