Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 133 B, Issue 1, 2005, Pages 124-126

  Padiath, Quasar Saleem ^a,c   Srivastava, Achal Kumar ^b   Roy, Sanghmitra ^a   Jain, Satish ^a,d   Brahmachari, Samir Kumar ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^c TATA INSTITUTE OF FUNDAMENTAL RESEARCH   (India)

^d Indian Epilepsy Centre   (India)

Author keywords

CAG repeat; Haplotype; Intermediate allele; Machado Joseph Disease spinocerebellar ataxia 3; Repeat instability

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; BRAIN STEM; CEREBELLUM ATROPHY; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC STABILITY; HEREDITY; HUMAN; MACHADO JOSEPH DISEASE; MALE; NUCLEOTIDE REPEAT; PRIORITY JOURNAL; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION;

AGED; ALLELES; ATROPHY; BASE SEQUENCE; BRAIN STEM; CEREBELLUM; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; INDIA; MACHADO-JOSEPH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 12944270425     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30088     Document Type: Article

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