Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus.
Padiath
Quasar Saleem
QS
Functional Genomics Unit, Institute of Genomics and Integrative Biology (Formerly Centre for Biochemical Technology), [CSIR], Delhi, India. qpadiath@itsa.ucsf.edu
Srivastava
Achal Kumar
AK
Roy
Sanghmitra
S
Jain
Satish
S
Brahmachari
Samir Kumar
SK
D000368:Aged; D000483:Alleles; D000067699:Ataxin-3; D001284:Atrophy; D001483:Base Sequence; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007194:India; D017827:Machado-Joseph Disease / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012097:Repressor Proteins; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics*
D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3