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Brain Research Bulletin

Volumn 56, Issue 3-4, 2001, Pages 397-403

SCA12: An unusual mutation leads to an unusual spinocerebellar ataxia

(4) Holmes, Susan E a,b Hearn, Elizabeth O a Ross, Christopher A a Margolis, Russell L a

a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE (United States)

b Division of Neurobiology (United States)

Author keywords

Ataxia; Neurodegeneration; PPP2R2B; Promoter; Tremor; Trinucleotide repeat

Indexed keywords

MUTANT PROTEIN; PHOSPHOPROTEIN PHOSPHATASE 2A;

ALLELE; CLINICAL FEATURE; CONFERENCE PAPER; DNA POLYMORPHISM; HUMAN; NERVE DEGENERATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN PHOSPHORYLATION; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHOSPHOPROTEIN PHOSPHATASE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 0035503214 PISSN: 03619230 EISSN: None Source Type: Journal
DOI: 10.1016/S0361-9230(01)00596-2 Document Type: Conference Paper

Times cited : (77)

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