The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1324-1332

  Hersheson, Joshua ^a   Haworth, Andrea ^a   Houlden, Henry ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Ataxia; Mutation database; Neurogenetics; Next generation sequencing

Indexed keywords

EXCITATORY AMINO ACID TRANSPORTER 1; NUCLEIC ACID BINDING PROTEIN; POTASSIUM CHANNEL KV1.1; PROTEIN SCA11; PROTEIN SCA13; PROTEIN SCA14; PROTEIN SCA15; PROTEIN SCA16; PROTEIN SCA20; PROTEIN SCA23; PROTEIN SCA27; PROTEIN SCA28; PROTEIN SCA35; PROTEIN SCA5; UNCLASSIFIED DRUG;

ATAXIA; CAG REPEAT; CHOREOATHETOSIS; DISEASE REGISTRY; DISEASE SEVERITY; DNA REPAIR; GENE LOCUS; GENE SEQUENCE; GENETIC DATABASE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; MISSENSE MUTATION; MYOKYMIA; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY;

DATABASES, GENETIC; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC LOCI; GENETIC RESEARCH; GENOME, HUMAN; HUMANS; MICROSATELLITE REPEATS; MUTATION; SPINOCEREBELLAR DEGENERATIONS;

EID: 84865164599     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22132     Document Type: Review

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